
Test Code
|
Test |
List Price |
CPT Codes |
3000 |
Mitochondrial DNA Screening Panel (Point Mutations and Deletions) | 1090 |
83896x20, 83894x2, 83893x18, 83892x2, 83912, 83901, 83897x2, 83891, 83900 |
3005 |
Mitochondrial DNA Screen Panel Quantification | 390 |
83903, 83897, 83894, 83892, 83912, 83891 |
3025 |
Leber's Optic Neuropathy (LHON) Point Mutations | 680 |
83896x15, 83893x15, 83901x2, 83912, 83891, 83900 |
3026 |
Leber's Optic Neuropathy (LHON) Point Mutations - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3030 |
Maternally Inherited Sensorineural Hearing Loss (MISNHL) | 690 |
83904x4, 83912, 83898x4, 83891 |
3031 |
Maternally Inherited Sensorineural Hearing Loss (MISNHL) - KFM | 310 |
83912, 83900, 83901x2, 83904x2, 83894x2, 83891 |
3035 |
Cytochrome c Oxidase (COX) Subunits | 890 |
83904x10, 83898x4, 83912, 83891 |
3036 |
Cytochrome c Oxidase (COX) Subunits - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3040 |
Cytochrome b Subunit | 580 |
83904x5, 83898x2, 83912, 83891 |
3041 |
Cytochrome b Subunit - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3045 |
ATPase Subunits Sequencing | 580 |
83904x4, 83898, 83912, 83891 |
3046 |
ATPase Subunits Sequencing - KFM | 310 |
883904x4, 83898x2, 83912, 83891, 83894x2 |
3050 |
Complex I Subunits Sequencing | 1770 |
83904x24, 83898x8, 83912, 83891 |
3051 |
Complex I Subunits Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3055 |
Whole Genome Sequencing | 3250 |
83904x65, 83898x32, 83912, 83891 |
3056 |
Whole Genome Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3060 |
MNGIE-Thymidine Phosphorylase Sequencing | 1050 |
83904x8, 83898x4, 83912, 83891, 83894x2 |
3061 |
MNGIE-Thymidine Phosphorylase Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3062 |
MNGIE-Thymidine Phosphorylase Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3065 |
POLG1 Related Disorders - POLG1 Sequencing | 2030 |
83904x44, 83898x12, 83912, 83891, 83894x2 |
3066 |
POLG1 Related Disorders - POLG1 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3067 |
POLG1 Related Disorders - Prenatal | 1550 |
Please contact Billing for more information |
3070 |
Myopathic mtDNA Depletion Syndrome (Thymidine Kinase) TK2 Sequencing | 1600 |
83904x20, 83898X10, 83912, 83891, 83894x2 |
3071 |
Myopathic mtDNA Depletion Syndrome (Thymidine Kinase) TK2 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3072 |
Myopathic mtDNA Depletion Syndrome (Thymidine Kinase) TK2 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3075 |
Deoxyguanosine Kinase (DGUOK) Sequencing | 1300 |
83904x10, 83898x5, 83912, 83891, 83894x2 |
3076 |
Deoxyguanosine Kinase (DGUOK) Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3077 |
Deoxyguanosine Kinase (DGUOK) - Prenatal | 1550 |
Please contact Billing for more information |
3080 |
mtDNA Depletion and Multiple Deletions (POLG1, TK2, SUCLA2, & DGUOK) | 4200 |
83904x98, 83898x49, 83912x4, 83891, 83894x8 |
3085 |
Complex IV (COX) Deficiency - SURF1 Sequencing | 1100 |
83904x16, 83898x8, 83912, 83891, 83894x2 |
3086 |
Complex IV (COX) Deficiency - SURF1 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3087 |
Complex IV (COX) Deficiency - SURF1 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3090 |
Complex IV (COX) Deficiency - SCO2 Sequencing | 450 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3091 |
Complex IV (COX) Deficiency - SCO2 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3092 |
Complex IV (COX) Deficiency - SCO2 Sequencing - Prenatal | 1500 |
Please contact Billing for more information |
3095 |
Complex IV (COX) Deficiency - SCO1 Sequencing | 690 |
83904x12, 83898x6, 83912, 83891, 83894x2 |
3096 |
Complex IV (COX) Deficiency - SCO1 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3097 |
Complex IV (COX) Deficiency - SCO1 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3100 |
Complex IV (COX) Deficiency - COX10 Sequencing | 840 |
83904x10, 83898x5, 83912, 83891, 83894x2 |
3101 |
Complex IV (COX) Deficiency - COX10 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3102 |
Complex IV (COX) Deficiency - COX10 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3105 |
Complex IV (COX) Deficiency - SURF1, SCO2, SCO1, & COX10 Sequencing |
2700 |
83904x40, 83898x20, 83912x4, 83891, 83894x8 |
3110 |
BCS1L Related Complex III Deficiency | 690 |
83904x8, 83898x4, 83912, 83891, 83894x2 |
3111 |
BCS1L Related Complex III Deficiency - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3112 |
BCS1L Related Complex III Deficiency - Prenatal | 1550 |
Please contact Billing for more information |
3115 |
Medium Chain acyl-CoA Dehydrogenase Deficiency (MCAD) - ACADM Sequencing | 990 |
83904x24, 83898x12, 83912, 83891 |
3116 |
Medium Chain acyl-CoA Dehydrogenase Deficiency (MCAD) - ACADM Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3117 |
Medium Chain acyl-CoA Dehydrogenase Deficiency (MCAD) - One Mutation Analysis (K304E) | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3120 |
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) - HADHA Sequencing | 1900 |
83904x40, 83898x20, 83912, 83891, 83894x2 |
3121 |
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) - HADHA Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3122 |
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) - Common Mutation Analysis (1528G>C & 1132>T) | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3125 |
Hereditary Fructose Intolerance - ALDOB Sequencing | 1050 |
83904x18, 83898x9, 83912, 83891, 83894x2 |
3126 |
Hereditary Fructose Intolerance - ALDOB Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3127 |
Hereditary Fructose Intolerance - ALDOB Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3130 |
Glycogen Storage Disease Type 1A (GSD1A) - G6PC Sequencing |
750 |
83904x10, 83898x5, 83912, 83891, 83894x2 |
3131 |
Glycogen Storage Disease Type 1A (GSD1A) - G6PC Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3132 |
Glycogen Storage Disease Type 1A (GSD1A) - G6PC Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3135 |
Phenylketonuria (PKU) - PAH Sequencing | 950 |
83904x24, 83898x12, 83912, 83891, 83894x2 |
3136 |
Phenylketonuria (PKU) - PAH Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3140 |
Ornithine Transcarbamylase Sequencing | 850 |
83904x20, 83898x10, 83912, 83891, 83894x2 |
3141 |
Ornithine Transcarbamylase Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3142 |
Ornithine Transcarbamylase Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3145 |
Guanidinoacetate Methyltransferase (GAMT) - GAMT Sequencing | 890 |
83904x12, 83898x6, 83912, 83891, 83894x2 |
3146 |
Guanidinoacetate Methyltransferase (GAMT) - GAMT Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3147 |
Guanidinoacetate Methyltransferase (GAMT) - GAMT Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3150 |
Creatine Transporter (CRTR) Deficiency - CT1/SLC6A8 Sequencing | 1560 |
83904x26, 83898x13, 83912, 83891, 83894x2 |
3151 |
Creatine Transporter (CRTR) Deficiency - CT1/SLC6A8 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3152 |
Creatine Transporter (CRTR) Deficiency - CT1/SLC6A8 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3155 |
Citrin Deficiency (Citrullinemia Type II) - SLC25A13 Sequencing | 1550 |
83904x36, 83898x18, 83912, 83891, 83894x2 |
3156 |
Citrin Deficiency (Citrullinemia Type II) - SLC25A13 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3157 |
Citrin Deficiency (Citrullinemia Type II) - SLC25A13 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3160 |
Carnitine Palmitoyltransferase II Deficiency - CPT2 Sequencing | 790 |
83904x10, 83898x5, 83912, 83891, 83894x2 |
3161 |
Carnitine Palmitoyltransferase II Deficiency - CPT2 Sequencing
- KFM |
310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3165 |
Pyruvate Dehydrogenase Deficiency - PDHA1 Sequencing |
1360 |
83904x22, 83898x11, 83912, 83891, 83894x2 |
3166 |
Pyruvate Dehydrogenase Deficiency - PDHA1 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3167 |
Pyruvate Dehydrogenase Deficiency - PDHA1 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3170 |
ad-PEO 2 (ANT1/SLC25A4) Sequencing | 690 |
83904x8, 83898x4, 83912, 83891, 83894x2 |
3171 |
ad-PEO 2 (ANT1/SLC25A4) Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3172 |
ad-PEO 2 (ANT1/SLC25A4) Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3175 |
ad-PEO 3 (TWINKLE/C10orf2) Sequencing | 790 |
83904x10, 83898x5, 83912, 83891, 83894x2 |
3176 |
ad-PEO 3 (TWINKLE/C10orf2) Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3177 |
ad-PEO 3 (TWINKLE/C10orf2) Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3180 |
Succinate Dehydrogenase Complex Subunit A - SDHA Sequencing | 1770 |
83891, 83898x15, 83904x30, 83912, 83894x2 |
3181 |
Succinate Dehydrogenase Complex Subunit A - SDHA Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3182 |
Succinate Dehydrogenase Complex Subunit A - SDHA Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3185 |
Succinate Dehydrogenase Complex Subunit B - SDHB Sequencing | 1130 |
83891, 83894x2, 83904x16, 83898x8, 83912 |
3186 |
Succinate Dehydrogenase Complex Subunit B - SDHB Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3187 |
Succinate Dehydrogenase Complex Subunit B - SDHB Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3190 |
Succinate Dehydrogenase Complex Subunit C - SDHC Sequencing | 790 |
83891, 83894x2, 83904x12, 83898x6, 83912 |
3191 |
Succinate Dehydrogenase Complex Subunit C - SDHC Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3195 |
Succinate Dehydrogenase Complex Subunit D (SDHD) Sequencing | 690 |
83891, 83894x2, 83904x8, 83898x4, 83912 |
3196 |
Succinate Dehydrogenase Complex Subunit D (SDHD) Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3200 |
Respiratory Chain (Electron Transport Chain) Enzymes - Skeletal Muscle | 830 |
84311x6, 82657x6, 83912, 83890 |
3210 |
Respiratory Chain (Electron Transport Chain) Enzymes - Skin Fibroblasts | 1090 |
84311x6, 82657x6, 88233, 83912, 83890, 88240 |
3300 |
Autosomal Dominant PEO Panel (POLG1, ANT1, and TWINKLE) | 3000 |
83904x60, 83898x30, 83912x3, 83891, 83894x6 |
3305 |
Progressive Familial Intrahepatic Cholestasis 1 (PFIC1) - ATP8B1 Sequencing | 2200 |
83891, 83898x27, 83904x54, 83912, 83894x2 |
3306 |
Progressive Familial Intrahepatic Cholestasis 1 (PFIC1) - ATP8B1 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3307 |
Progressive Familial Intrahepatic Cholestasis 1 (PFIC1) - ATP8B1 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3310 |
Progressive Familial Intrahepatic Cholestasis 2 (PFIC2) - ABCB11 Sequencing | 2200 |
83891, 83898x27, 83904x54, 83912, 83894x2 |
3311 |
Progressive Familial Intrahepatic Cholestasis 2 (PFIC2) - ABCB11 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3312 |
Progressive Familial Intrahepatic Cholestasis 2 (PFIC2) - ABCB11 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3315 |
Progressive Familial Intrahepatic Cholestasis 3 (PFIC3) - ABCB4/MDR3 Sequencing | 2200 |
83891, 83898x27, 83904x54, 83912, 83894x2 |
3316 |
Progressive Familial Intrahepatic Cholestasis 3 (PFIC3) - ABCB4/MDR3 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3317 |
Progressive Familial Intrahepatic Cholestasis 3 (PFIC3) - ABCB4/MDR3 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3320 |
Infantile Hepatic mtDNA Depletion - MPV17 Sequencing | 790 |
83904x14, 83898x7, 83912, 83891, 83894x2 |
3321 |
Infantile Hepatic mtDNA Depletion - MPV17 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3322 |
Infantile Hepatic mtDNA Depletion - MPV17 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3335 |
Hepatocerebral mtDNA Depletion Panel (POLG1, DGUOK & MPV17) | 3620 |
83904x68, 83898x34, 83912x3, 83891, 83894x6 |
3340 |
Deafness-Dystonia-Optic Neuropathy Syndrome - TIMM8A Sequencing | 400 |
83891, 83904x4, 83898x2, 83912, 83894x2 |
3341 |
Deafness-Dystonia-Optic Neuropathy Syndrome - TIMM8A Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3342 |
Deafness-Dystonia-Optic Neuropathy Syndrome - TIMM8A Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3345 |
Carbamoyl Phosphate Synthetase I Deficiency - CPS1 Sequencing | 2800 |
83891, 83904x76, 83898x38, 83912, 83894x2 |
3346 |
Carbamoyl Phosphate Synthetase I Deficiency - CPS1 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3347 |
Carbamoyl Phosphate Synthetase I Deficiency - CPS1 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3350 |
N-Acetylglutamate Synthase Deficiency - NAGS Sequencing | 750 |
83891, 83904x14, 83898x7, 83912, 83894x2 |
3351 |
N-Acetylglutamate Synthase Deficiency - NAGS Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3355 |
Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) - ACADVL Sequencing |
1500 |
83891, 83904x40, 83898x20, 83912, 83894x2 |
3356 |
Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) - ACADVL Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3360 |
Systemic Carnitine Deficiency - SLC22A5 Sequencing | 1300 |
83891, 83904x20, 83898x10, 83912, 83894x2 |
3361 |
Systemic Carnitine Deficiency - SLC22A5 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3362 |
Systemic Carnitine Deficiency - SLC22A5 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3365 |
Carnitine Palmitoyltransferase 1 Deficiency - CPT1A Sequencing | 2230 |
83891, 83898x20, 83904x40, 83912, 83894x2 |
3366 |
Carnitine Palmitoyltransferase 1 Deficiency - CPT1A Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3370 |
Carnitine Palmitoyltransferase 1 Deficiency - CPT1B Sequencing |
2230 |
83891, 83898x18, 83904x36, 83912, 83894x2 |
3371 |
Carnitine Palmitoyltransferase 1 Deficiency - CPT1B Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3375 |
Encephalomyopathic mtDNA Depletion Syndrome - SUCLA2 Sequencing |
1410 |
83904x24, 83898x11, 83912, 83891, 83894x2 |
3376 |
Encephalomyopathic mtDNA Depletion Syndrome - SUCLA2 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3377 |
Encephalomyopathic mtDNA Depletion Syndrome - SUCLA2 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3380 |
ad-PEO with mtDNA Deletions-4 (PEOA4) - POLG2 Sequencing | 890 |
83891, 83904x16, 83898x8, 83912, 83894x2 |
3381 |
ad-PEO with mtDNA Deletions-4 (PEOA4) - POLG2 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3382 |
ad-PEO with mtDNA Deletions-4 (PEOA4) - POLG2 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3385 |
Long Chain Acyl-CoA Dehydrogenase Deficiency (ACADL) | 1300 |
83891, 83904x22, 83898x11, 83912, 83894x2 |
3386 |
Long Chain Acyl-CoA Dehydrogenase Deficiency (ACADL) - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3390 |
Fatal Infantile Lactic Acidosis with mtDNA Depletion - SUCLG1 Sequencing | 1100 |
83891, 83904x18, 83898x9, 83912, 83894x2 |
3391 |
Fatal Infantile Lactic Acidosis with mtDNA Depletion - SUCLG1 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3392 |
Fatal Infantile Lactic Acidosis with mtDNA Depletion - SUCLG1 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3405 |
Coenzyme Q10 Deficiency - PDSS1 Sequencing | 1460 |
83891, 83904x24, 83898x12, 83912, 83894x2 |
3406 |
Coenzyme Q10 Deficiency - PDSS1 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3407 |
Coenzyme Q10 Deficiency - PDSS1 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3410 |
Coenzyme Q10 Deficiency - PDSS2 Sequencing | 990 |
83891, 83904x16, 83898x8, 83912, 83894x2 |
3411 |
Coenzyme Q10 Deficiency - PDSS2 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3412 |
Coenzyme Q10 Deficiency - PDSS2 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3415 |
Coenzyme Q10 Deficiency - COQ2 Sequencing | 890 |
83891, 83904x14, 83898x7, 83912, 83894x2 |
3416 |
Coenzyme Q10 Deficiency - COQ2 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3417 |
Coenzyme Q10 Deficiency - COQ2 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3420 |
Myopathic mtDNA Depletion Syndrome - RRM2B Sequencing | 1100 |
83891, 83904x18, 83898x9, 83912, 83894x2 |
3421 |
Myopathic mtDNA Depletion Syndrome - RRM2B Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3422 |
Myopathic mtDNA Depletion Syndrome - RRM2B Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3425 |
Arginase Deficiency - ARG1 Sequencing | 990 |
83891, 83904x16, 83898x8, 83912, 83894x2 |
3426 |
Arginase Deficiency - ARG1 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3427 |
Arginase Deficiency - ARG1 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3435 |
Carnitine-Acylcarnitine Translocase Deficiency - SLC25A20 Sequencing | 1020 |
83891, 83904x18, 83898x9, 83912, 83894x2 |
3436 |
Carnitine-Acylcarnitine Translocase Deficiency - SLC25A20 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3437 |
Carnitine-Acylcarnitine Translocase Deficiency - SLC25A20 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3440 |
Methylmalonic Aciduria and Homocystinuria, cblC Type - MMACHC Sequencing | 690 |
83891, 83904x8, 83898x4, 83912, 83894x2 |
3441 |
Methylmalonic Aciduria and Homocysteinuria, cblC Type - MMACHC Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3445 |
Tyrosinemia, Type 1 - FAH Sequencing | 1050 |
83891, 83904x28, 83898x14, 83912, 83894x2 |
3446 |
Tyrosinemia, Type 1 - FAH Sequencing- KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3455 |
L-Arginine:Glycine Amidinotransferase Deficiency - GATM sequencing | 1100 |
83891, 83904x18, 83898x9, 83912, 83894x2 |
3456 |
L-Arginine:Glycine Amidinotransferase Deficiency - GATM sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3457 |
L-Arginine:Glycine Amidinotransferase Deficiency - GATM sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3460 |
Maple Syrup Urine Disease Type 3 - DLD Sequencing | 1660 |
83891, 83904x28, 83898x14, 83912, 83894x2 |
3461 |
Maple Syrup Urine Disease Type 3 - DLD Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3465 |
Optic Atrophy Type I - OPA1 sequencing | 3620 |
83891, 83904x60, 83898x30, 83912, 83894x2 |
3466 |
Optic Atrophy Type I - OPA1 sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3467 |
Optic Atrophy Type I - OPA1 sequencing - Prenatal | 1550 |
Please contact Billing for more information |
3475 |
TOMM20 Sequencing | 790 |
83891, 83904x10, 83898x5, 83912, 83894x2 |
3476 |
TOMM20 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3480 |
Complex I Deficiency - NDUFAF4 (C6ORF66) Sequencing | 530 |
83891, 83904x6, 83898x3, 83912, 83894x2 |
3481 |
Complex I Deficiency - C6ORF66 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3485 |
Complex I Deficiency - NDUFA1 Sequencing | 690 |
83891, 83904x6, 83898x3, 83912, 83894x2 |
3486 |
Complex I Deficiency - NDUFA1 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3490 |
Mitochondrial phosphate carrier deficiency - SLC25A3 Sequencing | 890 |
83891, 83904x14, 83898x7, 83912, 83894x2 |
3491 |
Mitochondrial phosphate carrier deficiency - SLC25A3 Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3495 |
Biotinidase Deficiency - BTD Sequencing | 790 |
83904x8, 83898x4, 83912, 83891, 83894x2 |
3496 |
Biotinidase Deficiency - BTD Sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3500 |
MitoMetSM Mitochondrial/Metabolic oligonucleotide array CGH analysis | 1240 |
83896x3, 83912, 83903x2, 83891 |
3501 |
MitoMetSM Mitochondrial/Metabolic oligonucleotide array CGH analysis-CNV | 620 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3525 |
Autosomal Dominant Optic Atrophy 3 - OPA3 sequencing | 690 |
83912, 83894, 83891, 83898x3, 83904x6, 83909x6 |
3526 |
Autosomal Dominant Optic Atrophy 3 - OPA3 sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
3530 |
Glycogen Storage Disease type 0 -GYS2 sequencing | 1660 |
83891, 83904x28, 83898x14, 83912, 83894x2 |
3531 |
Glycogen Storage Disease type 0 -GYS2 sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3535 |
Complex 1 Deficiency - NDUFAF2 sequencing | 740 |
83891, 83904x8, 83898x4, 83912, 83894x2 |
3536 |
Complex 1 Deficiency - NDUFAF2 sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3540 |
Holocarboxylase Deficiency - HLCS sequencing | 1100 |
83891, 83904x18, 83898x9, 83912, 83894x2 |
3541 |
Holocarboxylase Deficiency - HLCS sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3545 |
Complex IV (COX) Deficiency - COX15 Sequencing | 1100 |
83912, 83894, 83891, 83898x9, 83904x18, 83909x18 |
3546 |
Complex IV (COX) Deficiency - COX15 Sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
3555 |
Complex IV (COX) Deficiency - FASTKD2 Sequencing | 1400 |
83891, 83904x24, 83909x24, 83898x12, 83912, 83894x2 |
3556 |
Complex IV (COX) Deficiency - FASTKD2 Sequencing - KFM | 310 |
83891, 83904x2, 83909x2, 83898, 83912, 83894 |
3560 |
Complex I Deficiency- NDUFS4 sequencing | 740 |
83891, 83904x10, 83898x5, 83912, 83894x2 |
3561 |
Complex I Deficiency - NDUFS4 sequencing - KFM | 310 |
83904x4, 83898x2, 83912, 83891, 83894x2 |
3565 |
Complex I Deficiency - NDUFS6 sequencing | 530 |
83912, 83894, 83891, 83898x4, 83904x8, 83909x8 |
3566 |
Complex I Deficiency - NDUFS6 sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
3570 |
Complex I Deficiency - NDUFS3 sequencing | 890 |
83912, 83894, 83891, 83898x7, 83904x14, 83909x14 |
3571 |
Complex I Deficiency - NDUFS3 sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
3575 |
MMAA-Related Methylmalonic Aciduria - MMAA Sequencing | 720 |
83891, 83898x6, 83894, 83904x12, 83909x12, 83912 |
3576 |
MMAA-Related Methylmalonic Aciduria -MMAA Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
3580 |
MMAB-Related Methylmalonic Aciduria - MMAB Sequencing | 1080 |
83891, 83898x9, 83894, 83904x18, 83909x18, 83912 |
3581 |
MMAB-Related Methylmalonic Aciduria -MMAB Sequencing - KFM | 310 |
83891,83898,83894,83904x2,83909x2,83912 |
3585 |
MUT-Related Methylmalonic Aciduria - MUT Sequencing | 1440 |
83891, 83898x13, 83894, 83904x26, 83909x26, 83912 |
3586 |
MUT-Related Methylmalonic Aciduria -MUT Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
3590 |
Complex I Deficiency - NDUFV1 sequencing | 960 |
83912, 83894, 83891, 83898x8, 83904x16, 83909x16 |
3591 |
Complex I Deficiency - NDUFV1 sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
3600 |
PHEO and PGL-Associated Syndromes Panel (SDHB, SDHC, and SDHD) | 2390 |
83891, 83894x6, 83904x36, 83898x18, 83912x3 |
3605 |
Complex I Deficiency - NDUFS7 sequencing | 940 |
83912, 83894, 83891, 83898x8, 83904x16, 83909x16 |
3606 |
Complex I Deficiency - NDUFS7 sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
3610 |
Barth Syndrome - TAZ Sequencing | 700 |
83912, 83894, 83891, 83898x6, 83904x12, 83909x12 |
3611 |
Barth Syndrome - TAZ Sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
3620 |
Nuclear Complex 1 Panel (NDUFS3, NDUFS4, NDUFS7, NDUFA1, NDUFAF2, C6ORF66, NDUFS6, & NDUFV1) | 4800 |
83912x8, 83894, 83891x2, 83898x42, 83904x84, 83909x84 |
3625 |
Complex IV (COX) Deficiency - COX6B1 Sequencing | 470 |
83912, 83894, 83891, 83898x4, 83904x8, 83909x8 |
3626 |
Complex IV (COX) Deficiency - COX6B1 Sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
3630 |
Trifunctional Protein Deficiency - HADHB Sequencing | 1900 |
83912, 83894, 83891, 83898x13, 83904x26, 83909x26 |
3631 |
Trifunctional Protein Deficiency - HADHB Sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
3635 |
MCCC1-Related 3-methylcrontonyl-CoA-Carboxylase Deficiency - MCCC1 Sequencing | 1200 |
83891, 83904x36, 83909x36, 83898x18, 83912, 83894x2 |
3636 |
MCCC1-Related 3-methylcrontonyl-CoA-Carboxylase Deficiency - MCCC1 Sequencing - KFM | 310 |
83891, 83904x2, 83909x2, 83898, 83912, 83894 |
3640 |
MCCC2-Related 3-methylcrontonyl-CoA-Carboxylase Deficiency - MCCC2 Sequencing | 1000 |
83891, 83904x32, 83909x32, 83898x16, 83912, 83894x2 |
3641 |
MCCC2-Related 3-methylcrontonyl-CoA-Carboxylase Deficiency - MCCC2 Sequencing - KFM | 310 |
83891, 83904x2, 83909x2, 83898, 83912, 83894 |
3645 |
TSFM-Related Combined Oxidative Phosphorylation Deficiency - TSFM Sequencing | 700 |
83891, 83904x12, 83909x12, 83898x6, 83912, 83894x2 |
3646 |
TSFM-Related Combined Oxidative Phosphorylation Deficiency - TSFM Sequencing - KFM | 310 |
83891, 83904x2, 83909x2, 83898, 83912, 83894 |
3650 |
Mitochondrial Myopathy and Sideroblastic Anemia (MLASA) - PUS1 Sequencing | 700 |
83904x12, 83912, 83909x12, 83898x6, 83894, 83891 |
3651 |
Mitochondrial Myopathy and Sideroblastic Anemia (MLASA) - PUS1 Sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
3700 |
mtDNA content in Muscle | 780 |
83891, 83898x14, 83894, 83904x28, 83909x28, 83912 |
3720 |
mtDNA content in Liver | 780 |
83891, 83898x14, 83894, 83904x28, 83909x28, 83912 |
4000 |
Biochemical 6-Plex | 1240 |
Please contact Billing for more information |
4100 |
Amino Acids Analysis, Plasma | 240 |
82139, 82492 |
4110 |
Phenylalanine/Tyrosine - Serum or Plasma | 60 |
84030, 84510 |
4130 |
Creatine/Guanidinoacetate Analysis, Plasma | 150 |
83789x2 |
4140 |
Homocysteine, Plasma | 70 |
83789x2 |
4150 |
Methylmalonic Acid, Plasma | 130 |
82543 |
4160 |
Amino Acid Analysis, CSF-Quantitative | 240 |
82139, 82492 |
4170 |
Amino Acids, Amniotic Fluid | 240 |
82139, 82492 |
4200 |
Organic Acid Screen, Urine | 230 |
82541, 82570 |
4210 |
Orotic Acid/Orotidine Analysis, Urine | 80 |
82570, 83789x2 |
4220 |
Purine Profile, Urine | 280 |
82570, 83789x7 |
4225 |
Sulfocysteine Determination, Urinary | 210 |
82570, 83789 |
4240 |
Amino Acid Analysis, Urinary | 290 |
82139, 82486, 82570 |
4250 |
Succinylacetone, Urine | 240 |
82491, 82570 |
4260 |
Creatine/Guanidinoacetate Analysis, Urine | 210 |
82570, 83789x2 |
4300 |
Acylcarnitine/Carnitine Combination, Plasma | 280 |
83789 |
4310 |
Carnitine, Free and Total, Plasma | 130 |
83789x2 |
4330 |
Thymidine, Plasma | 210 |
83789x4 |
4340 |
Polyols, Urinary | 240 |
82544, 82570 |
4500 |
Wolman Disease (Cholesterol Ester Storage), Amniotic Cell Culture | 1550 |
Please contact Billing for more information |
4501 |
Wolman Disease (Cholesterol Ester Storage), Cultured Chorionic Villus Cells | 1550 |
Please contact Billing for more information |
4502 |
Wolman Disease (Cholesterol Ester Storage), Liver | 360 |
82658, 84155 |
4503 |
Wolman Disease (Cholesterol Ester Storage), Skin Fibroblast Culture | 550 |
82658, 88233, 84155, 88240 |
4504 |
Wolman Disease (Cholesterol Ester Storage), White Blood Cells | 360 |
82658, 84155 |
4507 |
Adenosine Deaminase Deficiency, Amniotic Cell Culture | 1550 |
Please contact Billing for more information |
4508 |
Adenosine Deaminase Deficiency, Cultured Chorionic Villus Cells | 1550 |
Please contact Billing for more information |
4509 |
Adenosine Deaminase Deficiency, Red Blood Cells | 480 |
82658 ,82489, 83026 |
4510 |
Adenosine Deaminase Deficiency, Skin Fibroblast Culture | 600 |
82658, 82489, 88240, 88233, 84155 |
4511 |
Adenosine Deaminase Deficiency, White Blood Cells | 500 |
82658, 84155, 82489 |
4512 |
Fucosidosis, Skin Fibroblast Culture | 350 |
82657, 84155, 88240, 88235 |
4513 |
Fucosidosis, White Blood Cells | 190 |
82657, 84155 |
4514 |
Aspartylglucosaminuria, Skin Fibroblast Culture | 300 |
82657, 84155, 84311, 88233, 88240 |
4516 |
Fabry Disease , Skin Fibroblast Culture | 350 |
82657, 84155, 88240, 88233 |
4517 |
Fabry Disease , White Blood Cells | 190 |
82657, 84155 |
4519 |
Pompe Disease, Muscle | 190 |
82657, 84155 |
4520 |
Pompe Disease, Skin Fibroblast Culture | 350 |
82657, 84155, 88240, 88233 |
4521 |
Argininosuccinate Lyase Deficiency, Amniotic Cell Culture | 1550 |
Please contact Billing for more information |
4522 |
Argininosuccinate Lyase Deficiency, Cultured Chorionic Villus Cells | 1550 |
Please contact Billing for more information |
4523 |
Argininosuccinate Lyase Deficiency, Liver | 350 |
82657, 84311, 84520, 84155 |
4524 |
Argininosuccinate Lyase Deficiency, Red Blood Cells | 350 |
82657, 84311, 84520, 84155 |
4525 |
Argininosuccinate Lyase Deficiency, Skin Fibroblast Culture | 550 |
82658, 82491, 88240, 88233, 84155 |
4526 |
Mannosidosis - Serum | 160 |
82657 |
4527 |
Mannosidosis - Skin Fibroblast Culture | 350 |
82657, 84155, 88240, 88233 |
4528 |
Mannosidosis - White Blood Cells | 190 |
82657, 84155 |
4535 |
Argininemia, Liver | 230 |
82657, 84155, 84520, 84311 |
4536 |
Argininemia, Red Blood Cells | 230 |
82657, 83026, 84520, 84311 |
4537 |
Metachromatic Leukodystrophy, Skin Fibroblast Culture | 350 |
82657, 84311, 84155, 88240, 88233 |
4538 |
Metachromatic Leukodystrophy, White Blood Cells | 190 |
84311, 82657, 84155 |
4540 |
Maroteaux-Lamy (MPS VI), Skin Fibroblast Culture | 300 |
82657, 84311, 84155, 88240, 88233 |
4542 |
Citrullinemia, Amniotic Cell Culture | 1550 |
Please contact Billing for more information |
4543 |
Citrullinemia, Cultured Chorionic Villus Cells | 1550 |
Please contact Billing for more information |
4544 |
Citrullinemia, Liver | 350 |
82658, 82491, 84155 |
4545 |
Citrullinemia, Skin Fibroblast Culture | 550 |
82491, 84155, 82658, 88240, 88233 |
4548 |
GM1 Gangliosidosis (Morquio B, MPS IV B), Skin Fibroblast Culture | 350 |
82657, 84155, 88240, 88233 |
4549 |
GM1 Gangliosidosis (Morquio B, MPS IV B), White Blood Cells | 190 |
82657, 84155 |
4550 |
GM1 Gangliosidosis (Morquio B, MPS IV B), Serum | 190 |
82657, 84155 |
4551 |
GM1 Gangliosidosis (Morquio B, MPS IV B), Skin Fibroblast Culture | 350 |
82657, 84155, 88233, 88240 |
4553 |
Gaucher Disease, Skin Fibroblast Culture | 300 |
82657, 84155, 88240, 88233 |
4554 |
Gaucher Disease, White Blood Cells | 420 |
84155, 82963 |
4555 |
Biotinidase, Serum | 90 |
82261 |
4561 |
Carbamyl Phosphate Synthetase Deficiency, Liver | 290 |
82657, 84155, 84311, 84520 |
4565 |
Krabbe Disease, Skin Fibroblast Culture | 500 |
82658, 84155, 88233, 88240 |
4566 |
Krabbe Disease, White Blood Cells | 340 |
82658, 84155 |
4569 |
Tay-Sachs Disease, Serum | 180 |
83080 |
4570 |
Lesch-Nyhan Disease, Amniotic Cell Culture | 1550 |
Please contact Billing for more information |
4571 |
Lesch-Nyhan Disease, Cultured Chorionic Villus Cells | 1550 |
Please contact Billing for more information |
4572 |
Lesch-Nyhan Disease, Red Blood Cells | 500 |
82658, 83026 |
4573 |
Lesch-Nyhan Disease, Skin Fibroblast Culture | 650 |
82489, 82658, 84155, 88233, 88240 |
4575 |
Hurler Disease (Hurler-Scheie, MPS I), Skin Fibroblast Culture | 350 |
82657, 84155, 88240, 88233 |
4576 |
Hurler Disease (Hurler-Scheie, MPS I), White Blood Cells | 190 |
82657, 84155 |
4579 |
Sanfilippo B Mucopolysaccaridosis (MPS III), Serum | 160 |
82657 |
4580 |
Sanfilippo B Mucopolysaccaridosis (MPS III), Skin Fibroblast Culture | 300 |
82657, 84155, 88240, 88233 |
4582 |
Ornithine Transcarbamylase Deficiency, Liver | 290 |
82657, 84155, 84311 |
4583 |
Lowe Syndrome, Amniotic Cell Culture | 1550 |
Please contact Billing for more information |
4584 |
Lowe Syndrome, Cultured Chorionic Villus Cells | 1550 |
Please contact Billing for more information |
4585 |
Lowe Syndrome, Skin Fibroblast Culture | 620 |
82489, 82658, 84155, 88233, 88240 |
4590 |
Purine Nucleoside Phosphorylase Deficiency, Amniotic Cell Culture | 1550 |
Please contact Billing for more information |
4591 |
Purine Nucleoside Phosphorylase Deficiency, Cultured Chorionic Villus Cells | 1550 |
Please contact Billing for more information |
4592 |
Purine Nucleoside Phosphorylase Deficiency, Red Blood Cells | 480 |
82489, 82658, 83026 |
4593 |
Purine Nucleoside Phosphorylase Deficiency, Skin Fibroblast Culture | 600 |
82489, 82658, 84155, 88233, 88240 |
4594 |
Purine Nucleoside Phosphorylase Deficiency, White Blood Cells | 500 |
82489, 82658, 84155 |
4603 |
Sialidosis (Neuraminidase Deficiency), Skin Fibroblast Culture | 350 |
82657, 84155, 88233, 88240 |
4607 |
Niemann-Pick Disease, Skin Fibroblast Culture | 600 |
82658, 84155, 88233, 88240 |
4608 |
Niemann-Pick Disease, White Blood Cells | 350 |
82658, 84155 |
4613 |
Steroid Sulfatase Deficiency, Amniotic Cell Culture | 1550 |
Please contact Billing for more information |
4614 |
Steroid Sulfatase Deficiency, Skin Fibroblast Culture | 550 |
82658, 84155, 88233, 88240 |
4615 |
Steroid Sulfatase Deficiency, White Blood Cells | 390 |
82658, 84155 |
4617 |
Tay-Sachs Carrier Testing | 185 |
83080 |
4619 |
Galactosemia (UDPG Transferase), Red Blood Cells | 290 |
82489, 82658, 83026 |
4627 |
Cystine, White Blood Cells, Heparinized Blood | 240 |
82131, 84155 |
4630 |
Steroid Sulfatase Deficiency, Cultured Chorionic Villus Cell Culture | 1550 |
Please contact Billing for more information |
6000 |
Achondroplasia | 310 |
83788, 83914x3, 83912, 83900, 83901, 83891 |
6001 |
Ashkenazic Disease Screen (ADS) (includes CF, Canavan, FD, and Tay-Sachs DNA) | 310 |
83788x6, 83914x15, 83912, 83891, 83901x2, 83900x2, 83898x2 |
6003 |
Ashkenazic Disease Screen Plus (ADS+) (includes CF, Canavan, FD, Tay-Sachs DNA, and Tay-Sachs enzymatic) | 390 |
83788x6, 83914x14, 83912, 83080, 83901x2, 83900x2, 83898x2, 83891 |
6006 |
Angelman Syndrome (Methylation) | 390 |
83896, 83891, 83912, 83897, 83894, 83892 |
6007 |
Angelman Syndrome - UBE3A Sequencing | 2390 |
83904x24, 83912, 83909x24, 83898, 83894, 83891 |
6012 |
Bloom's Syndrome | 260 |
83788, 83914, 83912, 83898, 83891 |
6014 |
Cystic Fibrosis (CF) Mutation Analysis | 210 |
83788, 83914x2, 83912, 83900, 83901, 83898, 83891 |
6017 |
Cystic Fibrosis (CFTR 5T) Variant Analysis | 160 |
83788, 83914x3, 83912, 83900, 83901, 83891 |
6019 |
Connexin 26 Related Hereditary Hearing Loss - GJB2 Sequencing | 500 |
83904X3, 83912, 83909X6, 83898, 83894, 83891 |
6023 |
See test 6350 | ||
6027 |
Dentatorubral Pallidoluysian Atrophy (DRPLA) | 390 |
83898, 83891, 83894x2, 83892x2, 83897, 83896, 83912 |
6028 |
Factor V Leiden Mutation | 190 |
83914, 83912, 83898, 83891 |
6030 |
Familial Dysautonomia (FD) | 260 |
83788, 83914x2, 83898, 83912, 83891 |
6031 |
Friedreich Ataxia | 390 |
83898x2, 83891, 83912, 83892x2, 83894x3, 83896, 83897 |
6032 |
Fragile X Syndrome | 400 |
83900, 83901, 83891, 83892x3, 83894x3, 83896x2, 83897x2, 83912 |
6033 |
Gaucher Disease (GD) | 270 |
83898x2, 83890, 83893x6, 83896x7, 83912 |
6034 |
Huntington's Disease | 370 |
83912x2, 83900,83901x8, 83898x2, 83897x2, 83896x2, 83894x10, 83892x2, 83891x2 |
6035 |
Hereditary Hemochromatosis | 240 |
83914x3, 83912, 83898x2, 83891 |
6036 |
Incontinentia Pigmenti (IP) | 570 |
83891, 83897, 83896, 83892, 83912 |
6037 |
Kennedy Disease | 310 |
83898, 83891, 83894, 83912 |
6039 |
Lowe Syndrome - OCRL Sequencing |
1740 |
83904x23, 83912, 83909x66, 83898x12, 83894, 83891 |
6040 |
Maternal Cell Contamination (performed on all prenatals) | 180 |
Please contact Billing for more information |
6041 |
Myotonic Dystrophy | 400 |
83898, 83891, 83892x2, 83894x3, 83896x2, 83897x2, 83912 |
6045 |
MTHFR Variant Analysis | 190 |
83914, 83912, 83898, 83891 |
6047 |
Niemann-Pick Disease (Type A) | 260 |
83788, 83914x3, 83912, 83900, 83901, 83891 |
6048 |
Prothrombin (Factor II) | 190 |
83914, 83912, 83898, 83891 |
6050 |
Prader-Willi Syndrome (Methylation) | 390 |
83891, 83892, 83896, 83897, 83912 |
6052 |
RhD Molecular Typing (Trio) | 310 |
83900, 83901x2, 83894x2, 83890, 83912 |
6053 |
Sickle Cell Disease | 310 |
83788, 83914x3, 83912, 83891 |
6054 |
Spinocerebellar Ataxia Type 1 (SCA1) | 390 |
83898, 83891, 83892, 83894x2, 83896, 83897, 83912 |
6055 |
Spinocerebellar Ataxia Type 10 (SCA10) | 390 |
83898, 83891, 83892, 83894x2, 83896, 83897, 83912 |
6059 |
Spinal Muscular Atrophy (SMA) Diagnostic Test | 310 |
83898x2, 83891, 83892x2, 83912 |
6060 |
SRY Analysis | 310 |
83900, 83901, 83891, 83894, 83912 |
6062 |
Thrombophilia Panel (Factor V, Prothrombin & MTHFR) | 390 |
83904x3, 83912, 83898x3, 83891 |
6063 |
Fabry Disease - GLA Sequencing | 1410 |
83904X7, 83912, 83909X14, 83898X11, 83894, 83891 |
6065 |
Noonan Syndrome - PTPN11 Sequencing |
2030 |
83904x15, 83909x30, 83898x10, 83894, 83891 |
6066 |
Tay-Sachs Disease Screen | 190 |
83788, 83912, 83900, 83901, 83891 |
6067 |
ARX Related Disorders | 810 |
83904x25, 83912, 83909x25, 83898x10, 83894, 83891 |
6068 |
Rett Syndrome MECP2 Sequencing | 1280 |
83904x7, 83912, 83909x14, 83898x10, 83894, 83891 |
6069 |
Rett Syndrome Deletion/Duplication Analysis | 620 |
83891, 83892x2, 83894x4, 83896x2, 83897x2, 83912 |
6070 |
Canavan Disease Screen | 190 |
83788, 83914x3, 83912, 83900, 83901, 83891 |
6072 |
Angelman Syndrome - UBE3A Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6073 |
Angelman Syndrome - UBE3A Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6074 |
ARX Related Disorders - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6075 |
ARX Related Disorders - Prenatal | 1550 |
Please contact Billing for more information |
6078 |
Connexin 26 Related Hereditary Hearing Loss - GJB2 Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6080 |
Cystic Fibrosis (CF) - Prenatal | 1550 |
Please contact Billing for more information |
6087 |
APC-Associated Polyposis Conditions - APC Sequencing | 1740 |
83904x28, 83912, 83909x52, 83898x28, 83894, 83891 |
6089 |
APC-Associated Polyposis Conditions - APC Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6090 |
APC-Associated Polyposis Conditions - APC Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6091 |
Fragile X Syndrome - Prenatal | 1550 |
Please contact Billing for more information |
6092 |
Familial Adenomatous Polyposis (FAP) - Deletion/Duplication Assay - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83894, 83891 |
6094 |
Hereditary Non-Polyposis Colon Cancer (HNPCC) Panel (MLH1, MSH2, MSH6) Sequencing | 3310 |
83904x51, 83912, 83909x102 ,83898x51, 83894, 83891 |
6095 |
Hereditary Non-Polyposis Colon Cancer (HNPCC) MLH1 Sequencing | 1200 |
83904x19, 83912, 83909x38, 83898x19, 83894, 83891 |
6096 |
Hereditary Non-Polyposis Colon Cancer (HNPCC): MSH2 Sequencing | 1200 |
83904x16, 83912, 83909x32, 83898x16, 83894, 83891 |
6097 |
Hereditary Non-Polyposis Colon Cancer (HNPCC): MSH6 Sequencing | 1200 |
83904x19, 83912, 83909x38, 83898x19, 83894, 83891 |
6098 |
Hereditary Non-Polyposis Colon Cancer (HNPCC): MSI & IHC | 910 |
88342x4, 83894x2, 83912, 83901x2, 83900, 83891 |
6099 |
Huntington's Disease - Prenatal | 1550 |
Please contact Billing for more information |
6100 |
Incontinentia Pigmenti (IP) - Prenatal | 1550 |
Please contact Billing for more information |
6101 |
Lowe Syndrome - OCRL Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6102 |
Lowe Syndrome - OCRL Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6103 |
MYH Associated Polyposis (MYH) - KFM |
310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6104 |
MYH Associated Polyposis (MYH) - 2 Mutation Panel | 310 |
83901, 83900, 83912, 83896x2, 83893x2, 83890 |
6105 |
Myotonic Dystrophy - Prenatal | 1550 |
Please contact Billing for more information |
6106 |
Noonan Syndrome - PTPN11 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6107 |
Noonan Syndrome - PTPN11 Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6108 |
Rett Syndrome MECP2 Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6109 |
Rett Syndrome Deletion/Duplication Analysis - Prenatal | 1550 |
Please contact Billing for more information |
6110 |
Rett Syndrome MECP2 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6111 |
RhD Molecular Typing - Prenatal | 1550 |
Please contact Billing for more information |
6112 |
Rothmund Thomson Syndrome - RECQL4 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6113 |
Spinocerebellar Ataxia Type 1 (SCA1) - Prenatal | 1550 |
Please contact Billing for more information |
6114 |
Spinocerebellar Ataxia Type 10 (SCA10) - Prenatal | 1550 |
Please contact Billing for more information |
6115 |
X-linked Ocular Albinism - GPR143 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6116 |
Hereditary Non-Polyposis Colon Cancer (HNPCC): MLH1 Deletion/Duplication Assay | 650 |
83901x16, 83900, 83908x16, 83912, 83896x16 |
6117 |
Hereditary Non-Polyposis Colon Cancer (HNPCC): MSH2 Deletion/Duplication Assay | 650 |
83901x16, 83900, 83908x16, 83912, 83896x19 |
6118 |
Li-Fraumeni syndrome (LFS) - TP53 Sequencing only | 1460 |
83904x11, 83912, 83909x22, 83898x11, 83894, 83891 |
6119 |
Li-Fraumeni syndrome (LFS) - TP53 Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6120 |
MYH Associated Polyposis Sequencing |
1200 |
83904x19, 83912, 83909x18, 83898x9, 83894, 83891 |
6121 |
Rothmund Thomson Syndrome - RECQL4 Sequencing | 2130 |
83904x22, 83912, 83909x44, 83898x11, 83894, 83891 |
6122 |
Rothmund Thomson Syndrome - RECQL4 Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6123 |
X-linked Ocular Albinism - GPR143 Sequencing | 1200 |
83904x9, 83912, 83909x18, 83898x28, 83894, 83891 |
6125 |
Cartilage Hair Hypoplasia - RMRP Sequencing | 350 |
83904X25, 83912, 83909X25, 83898X12, 83894, 83891 |
6126 |
CDKL5 Related Atypical Rett Syndrome - CDKL5/STK9 Sequencing | 3110 |
83904X25, 83912, 83909X25, 83898X12, 83894, 83891 |
6127 |
Pelizaeus-Merzbacher Disease - PLP1 Sequencing |
940 |
83904x7, 83912, 83909x14, 83898x10, 83894, 83891 |
6128 |
Pelizaeus-Merzbacher Disease - PLP1 Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6129 |
CDKL5 Related Atypical Rett Syndrome - CDKL5/STK9 Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6130 |
Cartilage Hair Hypoplasia - RMRP Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6131 |
Cartilage Hair Hypoplasia - RMRP Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6132 |
CDKL5 Related Atypical Rett Syndrome - CDKL5/STK9 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6133 |
Pelizaeus-Merzbacher Disease - PLP1 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6135 |
Fabry Disease - GLA Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6136 |
Fabry Disease - GLA Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6140 |
See test 6351 | ||
6142 |
Hereditary Non-Polyposis Colon Cancer (HNPCC): MLH1 Sequencing - KFM | 310 |
83904X4, 83912, 83909X4, 83898X2, 83894, 83891 |
6143 |
Hereditary Non-Polyposis Colon Cancer (HNPCC): MSH2 Sequencing - KFM | 310 |
83904X4, 83912, 83909X4, 83898X2, 83894, 83891 |
6144 |
Hereditary Non-Polyposis Colon Cancer (HNPCC): MSH6 Sequencing - KFM | 310 |
83904X4, 83912, 83909X4, 83898X2, 83894, 83891 |
6145 |
X-linked Ocular Albinism - GPR143 Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6150 |
Cleidocranial Dysplasia - RUNX2 Sequencing | 1050 |
83904x16, 83912, 83909x16, 83898x8, 83894, 83891 |
6151 |
Cleidocranial Dysplasia - RUNX2 Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6152 |
Cleidocranial Dysplasia - RUNX2 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6165 |
CHARGE Syndrome - CHD7 Sequencing |
4290 |
83904x76, 83912, 83909x76, 83898x38, 83894, 83891 |
6170 |
CHARGE Syndrome - CHD7 Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6175 |
CHARGE Syndrome - CHD7 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6180 |
Citrullinemia Type I (CTLN1) - ASS Sequencing | 1870 |
83904x30, 83912, 83909x30, 83898x15, 83894, 83891 |
6185 |
Citrullinemia Type I (CTLN1) - ASS Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6190 |
Citrullinemia Type I (CTLN1) - ASS Sequencing - Prenatal | 1550 |
Please contact billing for more information |
6195 |
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)
- AIRE Sequencing |
2180 |
83904x32, 83912, 83909x32, 83898x18, 83894, 83891 |
6200 |
Autoimmune Polyendocrinopathy-Candidiasis Ectodermal Dystrophy (APECED) - AIRE Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6205 |
Autoimmune Polyendocrinopathy-Candidiasis Ectodermal Dystrophy (APECED) - AIRE Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6210 |
Leukoencephalopathy w/ Vanishing White Matter (VWN) - EIF2B5 Sequencing | 1740 |
83904x28, 83912, 83909x28, 83898x14, 83894, 83891 |
6215 |
Leukoencephalopathy w/ Vanishing White Matter (VWN) - EIF2B5 Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6220 |
Leukoencephalopathy w/ Vanishing White Matter (VWN) - EIF2B5 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6225 |
Familial Hypercholesterolemia - LDLR Sequencing | 2280 |
83891, 83898x18, 83894, 83904x36, 83909x36, 83912 |
6230 |
Familial Hypercholesterolemia - LDLR Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6240 |
Lesch-Nyhan - HPRT1 Sequencing | 1410 |
83891x1, 83898x11, 83894x1, 83904x22, 83909x22, 83912x1 |
6245 |
Lesch-Nyhan - HPRT1 Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6250 |
Lesch-Nyhan - HPRT1 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6255 |
Diamond-Blackfan Anemia - RPS19 Sequencing | 840 |
83904x12, 83912, 83909x12, 83898x6, 83894, 83891 |
6260 |
Diamond-Blackfan Anemia - RPS19 Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6265 |
Diamond-Blackfan Anemia - RPS19 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6270 |
Nail-Patella Syndrome - LMX1B Sequencing | 1050 |
83904x16, 83912, 83909x16, 83898x8, 83894, 83891 |
6275 |
Nail-Patella Syndrome - LMX1B Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6280 |
Nail-Patella Syndrome - LMX1B Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6285 |
Schmid Metaphyseal Chondrodysplasia (SMCD) - COL10A1 Sequencing | 810 |
83904x12, 83912, 83909x12, 83898x6, 83894, 83891 |
6290 |
Schmid Metaphyseal Chondrodysplasia (SMCD) - COL10A1 Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6295 |
Schmid Metaphyseal Chondrodysplasia (SMCD) - COL10A1 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6310 |
Osteogenesis Imperfecta (OI), Autosomal Recessive - CRTAP Sequencing | 1050 |
83891, 83898X8, 83894, 83904x16, 83909x16, 83912 |
6315 |
Osteogenesis Imperfecta (OI), Autosomal Recessive - CRTAP Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6320 |
Osteogenesis Imperfecta (OI), Autosomal Recessive - CRTAP Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6325 |
Osteogenesis Imperfecta (OI), Autosomal Recessive - LEPRE1 Sequencing | 2180 |
83891, 83898X16, 83894, 83904x32, 83909x32, 83912 |
6330 |
Osteogenesis Imperfecta, Autosomal Recessive - LEPRE1 Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6335 |
Osteogenesis Imperfecta, Autosomal Recessive - LEPRE1 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6340 |
Rett Sequencing of Exon 1 only | 320 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6345 |
Focal Dermal Hypoplasia - PORCN Sequencing | 1460 |
83891, 83898X11, 83894, 83904x22, 83909x22, 83912 |
6346 |
Focal Dermal Hypoplasia - PORCN Sequencing - KFM | 310 |
83904x2, 83912, 83909x2, 83898, 83891, 83894 |
6347 |
Focal Dermal Hypoplasia - PORCN Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6355 |
GJB6-Related DFNB1 Hereditary Hearing Loss | 300 |
83891, 83894, 83900, 83901, 83912 |
6360 |
Argininosuccinate Aciduria - ASL Sequencing | 1870 |
83891, 83898x13, 83894, 83904x26, 83909x26, 83912 |
6361 |
Argininosuccinate Aciduria - ASL Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6362 |
Argininosuccinate Aciduria - ASL Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6365 |
Friedreich Ataxia (FRDA) - FXN Sequencing | 940 |
83891, 83898x6, 83894, 83904x12, 83909x12, 83912 |
6366 |
Friedreich Ataxia (FRDA) - FXN Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6370 |
Cystic Fibrosis (CF) - CFTR Sequencing | 1870 |
83891, 83898x29, 83894, 83904x58, 83909x58, 83912 |
6371 |
Cystic Fibrosis (CF) - CFTR Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6372 |
Cystic Fibrosis (CF) - CFTR Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6380 |
Metachromatic Leukodystrophy (MLD) - ARSA Sequencing | 1100 |
83891, 83898x6, 83894, 83904x12, 83909x12, 83912 |
6381 |
Metachromatic Leukodystrophy (MLD) - ARSA Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6382 |
Metachromatic Leukodystrophy (MLD) - ARSA Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6385 |
Mucopolysaccharidosis I (MPS1) - IDUA Sequencing | 1920 |
83891, 83898x14, 83894, 83904x28, 83909x28, 83912 |
6386 |
Mucopolysaccharidosis I (MPS1) - IDUA Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6387 |
Mucopolysaccharidosis I (MPS1) - IDUA Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6390 |
Mucopolysaccharidosis Type II (MPS II) - IDS Sequencing only | 1360 |
83891, 83898x10, 83894, 83904x20, 83909x20, 83912 |
6391 |
Mucopolysaccharidosis Type II (MPS II) - IDS Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6392 |
Mucopolysaccharidosis Type II (MPS II) - IDS Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6400 |
Mucopolysaccharidosis Type IVA (MPS4A) - GALNS Sequencing | 1920 |
83891, 83898x14, 83894, 83904x28, 83909x28, 83912 |
6405 |
Mucopolysaccharidosis Type IVA (MPS4A) - GALNS Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6410 |
Mucopolysaccharidosis Type IVA (MPS4A) - GALNS Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6415 |
Krabbe Deficiency - GALC Sequencing | 2440 |
83891, 83898x20, 83894, 83904x40, 83909x40, 83912 |
6420 |
Krabbe Deficiency - GALC Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6425 |
Krabbe Deficiency - GALC Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6430 |
Wolman Disease - LIPA Sequencing | 1360 |
83891, 83898x11, 83894, 83904x22, 83909x22, 83912 |
6435 |
Wolman Disease - LIPA Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6440 |
Wolman Disease - LIPA Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6445 |
Noonan Syndrome - KRAS Sequencing | 940 |
83891, 83898x6, 83894, 83904x12, 83909x12, 83912 |
6450 |
Noonan Syndrome - KRAS Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6455 |
Noonan Syndrome - KRAS Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6460 |
Noonan Syndrome - SOS1 Sequencing | 1610 |
83891, 83898x28, 83894, 83904x56, 83909x56, 83912 |
6465 |
Noonan Syndrome - SOS1 Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6470 |
Noonan Syndrome - SOS1 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6475 |
Noonan Syndrome - RAF1 Sequencing | 2440 |
83891, 83898x16, 83894, 83904x32, 83909x32, 83912 |
6480 |
Noonan Syndrome - RAF1 Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6485 |
Noonan Syndrome - RAF1 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6490 |
Androgen Insensitivity Syndrome - AR Sequencing | 1900 |
83891, 83898x16, 83894, 83904x32, 83909x32, 83912 |
6495 |
Androgen Insensitivity Syndrome - AR Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6500 |
Androgen Insensitivity Syndrome - AR Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6505 |
PTEN-Related Disorders - PTEN Sequencing only | 1250 |
83891, 83898x12, 83894, 83904x24, 83909x24, 83912 |
6510 |
PTEN-Related Disorders - PTEN Sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
6515 |
PTEN-Related Disorders - PTEN Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6520 |
Familial platelet disorder with associated myeloid malignancy - RUNX1 Sequencing | 790 |
83891, 83898x11, 83894, 83904x22, 83909x22, 83912 |
6525 |
Familial platelet disorder with associated myeloid malignancy - RUNX1 Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6535 |
Bloom's Syndrome - BLM Sequencing | 3210 |
83891, 83898x29, 83894, 83904x58, 83909x58, 83912 |
6536 |
Bloom's Syndrome - BLM Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6537 |
Bloom's Syndrome - BLM Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6540 |
X-linked Angelman-like Syndrome - SLC9A6 Sequencing | 990 |
83891, 83898x19, 83894, 83904x38, 83909x38, 83912 |
6541 |
X-linked Angelman-like Syndrome - SLC9A6 Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6542 |
X-linked Angelman-like Syndrome - SLC9A6 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6545 |
Costello Syndrome - HRAS Sequencing | 550 |
83891, 83898x5, 83894, 83904x10, 83909x10, 83912 |
6546 |
Costello Syndrome - HRAS Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6547 |
Costello Syndrome - HRAS Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6555 |
Niemann-Pick Disease Type C - NPC1 Sequencing | 2500 |
83891, 83898x29, 83894, 83904x58, 83909x58, 83912 |
6556 |
Niemann-Pick Disease Type C - NPC1 Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6557 |
Niemann-Pick Disease Type C - NPC1 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6560 |
Niemann-Pick Disease Type C - NPC2 Sequencing | 850 |
83891, 83898x7, 83894, 83904x14, 83909x14, 83912 |
6561 |
Niemann-Pick Disease Type C - NPC2 Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6562 |
Niemann-Pick Disease Type C - NPC2 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6565 |
Rickets-Alopecia Syndrome - VDR Sequencing | 1410 |
83891, 83898x12, 83894, 83904x24, 83909x24, 83912 |
6566 |
Rickets-Alopecia Syndrome - VDR Sequencing - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6570 |
FMR1-Related Disorders - FMR1 Sequencing | 2600 |
83912, 83894, 83891, 83898x8, 83904x16, 83909x16 |
6571 |
FMR1-Related Disorders - FMR1 Sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
6572 |
FMR1-Related Disorders - FMR1 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6575 |
Ehlers-Danlos Syndrome - PLOD1 Sequencing | 2350 |
83912, 83894, 83891, 83898x20, 83904x40, 83909x40 |
6576 |
Ehlers-Danlos Syndrome - PLOD1 Sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
6577 |
Ehlers-Danlos Syndrome - PLOD1 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6580 |
COL2A1 Related Disorders - COL2A1 Sequencing | 3000 |
83912, 83894, 83891, 83898x46, 83904x92, 83909x92 |
6581 |
COL2A1 Related Disorders - COL2A1 Sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
6582 |
COL2A1 Related Disorders - COL2A1 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6600 |
ABCA4-Related Disorders - ABCA4 Sequencing |
5900 |
83912, 83894, 83891, 83898x50, 83904x100, 83909x100 |
6601 |
ABCA4-Related Disorders - ABCA4 Sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
6602 |
ABCA4-Related Disorders - ABCA4 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6635 |
Congenital Variant of Rett Syndrome - FOXG1 Sequencing | 470 |
83912, 83894, 83891, 83898x6, 83904x12, 83909x12 |
6636 |
Congenital Variant of Rett Syndrome - FOXG1 Sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
6637 |
Congenital Variant of Rett Syndrome - FOXG1 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6640 |
PMS2-Related Hereditary Non-polyposis Colorectal Cancer (HNPCC) - PMS2 Sequencing | 1870 |
83912, 83894, 83891, 83898x20, 83904x40, 83909x40 |
6641 |
PMS2-Related Hereditary Non-polyposis Colorectal Cancer (HNPCC) - PMS2 Sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
6645 |
Dyskeratosis Congenita - TINF2 Sequencing | 1050 |
83912, 83894, 83891, 83898x7, 83904x14, 83909x14 |
6646 |
Dyskeratosis Congenita - TINF2 Sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
6647 |
Dyskeratosis Congenita - TINF2 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6700 |
Colorectal Cancer Array-CGH Analysis for Genomic Rearrangements | Please contact Billing for more information | |
6701 |
Colorectal Cancer Array-CGH Analysis for Genomic Rearrangements-KFM | Please contact Billing for more information | |
6705 |
HNPCC MLH1 - Comprehensive (Sequencing & Deletion/Duplication Analysis) | 1350 |
83904x19, 83912x2, 83909x39, 83898x19, 83894, 83891, 83900,83901x19, 83914x19 |
6706 |
HNPCC MLH1 ONLY - Deletion/Duplication by MLPA | 470 |
83891, 83900, 83901x22, 83909, 83912, 83914x2283891, 83900, 83901x19, 83909, 83912, 83914x19 |
6710 |
HNPCC MSH2 - Comprehensive (Sequencing & Deletion/Duplication Analysis) | 1350 |
83904x16, 83912x2, 83909x33, 83898x16, 83894, 83891, 83900,83901x16, 83914x16 |
6711 |
HNPCC MSH2 ONLY - Deletion/Duplication by MLPA | 470 |
83891, 83900x2, 83901x16, 83909, 83912, 83914x16 |
6715 |
HNPCC MSH6 - Comprehensive (Sequencing & Deletion/Duplication Analysis) | 1350 |
83904x19, 83912x2, 83909x39, 83898x19, 83894, 83891, 83900,83901x10, 83914x10 |
6716 |
HNPCC MSH6 ONLY - Deletion/Duplication by MLPA | 470 |
83891, 83900, 83901x10, 83909, 83912, 83914x10 |
6720 |
APC Comprehensive (Sequencing & Deletion/Duplication Analysis) | 1900 |
83904x29, 83912x2, 83909x59, 83898x29, 83894, 83891, 83900, 83901x21, 83914x21 |
6721 |
APC Deletion/Duplication by MLPA | 470 |
83891, 83900, 83901x21, 83909, 83912, 83914x21 |
6722 |
APC Deletion/Duplication - Prenatal | 1550 |
Please contact Billing for more information |
6725 |
HNPCC - Comprehensive Panel (Sequencing & Deletion/Duplication Analysis) | 3650 |
83904x51, 83909x103, 83912x2,83898x51, 83894, 83891, 83900, 83901x45, 83914x45 |
6741 |
Familial Hypercholesterolemia - LDLR Deletion/Duplication Analysis | 470 |
83891, 83900, 83901x22, 83909, 83912, 83914x22 |
6765 |
Von Hippel-Lindau Syndrome - VHL Sequencing Only | 500 |
83891, 83898x3, 83894, 83904x6, 83909x6, 83912 |
6766 |
Von Hippel-Lindau Syndrome - VHL Sequencing Only - KFM | 310 |
83891, 83898, 83894, 83904x2, 83909x2, 83912 |
6767 |
Von Hippel-Lindau Syndrome - VHL Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6770 |
Von Hippel-Lindau Syndrome - VHL Comprehensive | 700 |
83891, 83898x3, 83894, 83904x6, 83909x6, 83912x2, 83900, 83901x8, 83914x8 |
6775 |
Von Hippel-Lindau Syndrome - VHL Deletion/Duplication by MLPA | 470 |
83891, 83900, 83901x8, 83909, 83912, 83914x8 |
6776 |
Von Hippel-Lindau Syndrome - VHL Deletion/Duplication by MLPA - Prenatal | 1550 |
Please contact Billing for more information |
6785 |
PTEN-Related Disorders - PTEN Deletion/Duplication by MLPA | 470 |
83891, 83900, 83901x12, 83909, 83912, 83914x12 |
6786 |
PTEN-Related Disorders - PTEN Deletion/Duplication by MLPA - Prenatal | 1550 |
Please contact Billing for more information |
6790 |
PTEN-Related Disorders - Comprehensive | 1500 |
83891, 83898x12, 83894, 83904x24, 83909x24, 83912x2, 83900, 83901x12, 83914x12 |
6805 |
Coronary Heart Disease Risk Factor (9p21 rs10757278) | 300 |
83891, 83898, 83914, 83788, 83912 |
6814 |
Mucopolysaccharidosis Type II (MPS II) - IDS Comprehensive | 1650 |
83891, 83898x14, 83894x2, 83904x20, 83909x20, 83912x3, 83900, 83901x14, 83914x14 |
6815 |
Mucopolysaccharidosis Type II (MPS II) - IDS Deletion/Duplication by MLPA & Inversion Analyses | 650 |
83891, 83900, 83909, 83912x2, 83901x14, 83914x14, 83898x4, 83894 |
6817 |
Mucopolysaccharidosis Type II (MPS II) - IDS Inversion Analysis | 310 |
83891, 83912, 83898x4, 83894 |
6816 |
Mucopolysaccharidosis Type II (MPS II) - IDS Deletion/Duplication by MLPA - Prenatal | 1550 |
Please contact Billing for more information |
6819 |
Mucopolysaccharidosis Type II (MPS II) - IDS Inversion - Prenatal | 1550 |
Please contact Billing for more information |
6820 |
Li-Fraumeni syndrome (LFS) - TP53 Deletion/Duplication by MLPA | 470 |
83891, 83900, 83901x12, 83909, 83912, 83914x12 |
6821 |
Li-Fraumeni syndrome (LFS) - TP53 Comprehensive | 1650 |
83891, 83898x11, 83894, 83904x22, 83909x22, 83912x2, 83900, 83901x12, 83914x12 |
6825 |
Oculocutaneous Albinism Type 1 - TYR Sequencing | 1200 |
83912, 83894, 83891, 83898x10, 83904x20, 83909x20 |
6826 |
Oculocutaneous Albinism Type 1 - TYR Sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
6827 |
Oculocutaneous Albinism Type 1 - TYR Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6830 |
Oculocutaneous Albinism Type 2 - OCA2 Sequencing | 1750 |
83912, 83894, 83891, 83898x27, 83904x54, 83909x54 |
6831 |
Oculocutaneous Albinism Type 2 - OCA2 Sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
6832 |
Oculocutaneous Albinism Type 2 - OCA2 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6833 |
Oculocutaneous Albinism Type 2 - OCA2 Targeted Deletion Analysis | 300 |
83891, 83894, 83900, 83912 |
6834 |
Oculocutaneous Albinism Type 2 - OCA2 Targeted Deletion Analysis - Prenatal | 1550 |
Please contact Billing for more information |
6835 |
Oculocutaneous Albinism Type 3 - TYRP1 Sequencing | 950 |
83912, 83894, 83891, 83898x7, 83904x14, 83909x14 |
6836 |
Oculocutaneous Albinism Type 3 - TYRP1 Sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
6837 |
Oculocutaneous Albinism Type 3 - TYRP1 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6840 |
Oculocutaneous Albinism Type 4 - SLC45A2 Sequencing | 940 |
83912, 83894, 83891, 83898x8, 83904x16, 83909x16 |
6841 |
Oculocutaneous Albinism Type 4 - SLC45A2 Sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
6842 |
Oculocutaneous Albinism Type 4 - SLC45A2 Sequencing - Prenatal | 1550 |
Please contact Billing for more information |
6845 |
Obesity, Monogenic Nonsyndromic, LEP Sequencing | 350 |
83912, 83894, 83891, 83898x3, 83904x6, 83909x6 |
6846 |
Obesity, Monogenic Nonsyndromic, LEP Sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
6850 |
Obesity, Monogenic Nonsyndromic, LEPR Sequencing | 2350 |
83912, 83894, 83891, 83898x26, 83904x52, 83909x52 |
6851 |
Obesity, Monogenic Nonsyndromic, LEPR Sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
6855 |
Obesity, Monogenic Nonsyndromic, PCSK1 Sequencing | 1650 |
83912, 83894, 83891, 83898x15, 83904x30, 83909x30 |
6856 |
Obesity, Monogenic Nonsyndromic, PCSK1 Sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
6860 |
Obesity, Monogenic Nonsyndromic, POMC Sequencing | 470 |
83912, 83894, 83891, 83898x6, 83904x12, 83909x12 |
6861 |
Obesity, Monogenic Nonsyndromic, POMC Sequencing - KFM | 310 |
83912, 83894, 83891, 83898, 83904x2, 83909x2 |
6870 |
Cytochrome P450 2C19 (CYP2C19) Genotyping | 420 |
83891, 83900, 83901x4, 83914x20, 83912 |
6875 |
Cytochrome P450 2D6 (CYP2D6) Genotyping | 420 |
83891, 83900, 83901x2, 83914x29, 83912 |
6880 |
Warfarin Sensitivity Genotyping | 420 |
83891, 83900, 83901x5, 83914x14, 83912 |
7000 |
Personalized Medical Genomic Profile | Please contact Billing for more information | |
7772 |
Chromosomal Microarray Analysis (CMA) - SNP Array | Please contact Billing for more information | |
8100 |
Male Specific Comprehensive Autism Panel | 3100 |
Please contact Billing for more information |
8110 |
Female Specific Comprehensive Autism Panel | 4640 |
Please contact Billing for more information |
8300 |
Chromosome Analysis - Bone Marrow | 910 |
88262, 88230, 88289, 88291, 88280 |
8310 |
Chromosome Analysis - Oncology Blood | 910 |
88262, 88230, 88289, 88291, 88280 |
8350 |
CLL FISH Panel (6q, 13q14, 13q34, cen12, 17p13, 11q23) | 980 |
88271x38, 88273, 88230, 88291 |
8355 |
Multiple Myeloma FISH Panel (13q14, 17p, IgH) | 980 |
88271x38, 88273, 88230, 88291 |
8385 |
Gain 8 chromosome FISH analysis | 470 |
88230, 88271, 88273, 88291 |
8410 |
Aneuploidy FISH (Amnio or CVS) | 620 |
Please contact Billing for more information |
8425 |
FISH - STAT (13 or 18 or X&Y only) | 930 |
88230, 88271, 88273, 88291, 99050 |
8430 |
Langer Giedion Syndrome (includes Ext 1 & TRPS 1) FISH Panel | 830 |
88230, 88271x3, 88273, 88291, 88280 |
8435 |
Multiple Exostoses FISH Panel (includes Ext 1 & Ext 2) | 830 |
88230, 88273, 88271x2, 88291, 88280 |
8440 |
Velocardiofacial Syndrome (22 & 10p) FISH Panel | 830 |
88230, 88273, 88271x2, 88291, 88280 |
8450 |
WAGR (Aniridia) FISH Panel | 800 |
88230, 88271x3, 88273, 88280, 88291 |
8455 |
Wilms Tumor (WT1) FISH | 730 |
88230, 88271, 88273, 88291 |
8456 |
1p36 deletion FISH | 730 |
88230, 88271, 88273, 88291 |
8457 |
Adrenal Hypoplasia Congenita FISH | 730 |
88230, 88271, 88273, 88291 |
8458 |
Alagille Syndrome FISH | 730 |
88230, 88271, 88273, 88291 |
8459 |
Angelman Syndrome FISH | 730 |
88230, 88271, 88273, 88291 |
8460 |
Beckwith-Wiedemann Syndrome FISH | 730 |
88230, 88271, 88273, 88291 |
8461 |
Centromere FISH Panel | 1060 |
88230, 88271x38, 88273, 88291 |
8462 |
Charcot-Marie-Tooth Disease (CMT1A) FISH | 730 |
88230, 88271, 88273, 88291 |
8464 |
Cri-du-Chat FISH | 520 |
88230, 88271, 88273, 88291 |
8465 |
DiGeorge Syndrome II (10p only) FISH | 730 |
88230, 88271, 88273, 88291 |
8466 |
Glycerol Kinase Deficiency FISH | 730 |
88230, 88273, 88271, 88291 |
8467 |
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) / Inherited Peripheral Neuropathies FISH | 730 |
88230, 88271, 88273, 88291 |
8468 |
Isolated Lissencephaly FISH | 520 |
88230, 88271, 88273, 88291 |
8469 |
Kallman Syndrome FISH | 520 |
88230, 88273, 88271, 88291 |
8470 |
MLS/MIDAS - FISH | 730 |
88230, 88273, 88271, 88291 |
8471 |
Miller-Dieker Syndrome (Isolated Lissencephaly) - FISH | 730 |
88230, 88273, 88271, 88291 |
8472 |
Multiple Exostoses 1 FISH | 520 |
88230, 88273, 88271, 88291 |
8473 |
Multiple Exostoses 2 FISH (Potocki/Shaffer) | 730 |
88230, 88273, 88271, 88291 |
8474 |
Neurofibromatosis 1 FISH | 730 |
88230, 88273, 88271, 88291 |
8475 |
Pelizaeus-Merzbacher Disease/Spastic Paraplegia 2 FISH | 730 |
88230, 88273, 88271, 88291 |
8476 |
Prader-Willi Syndrome FISH | 730 |
88230, 88273, 88271, 88291 |
8477 |
Rubinstein-Taybi Syndrome FISH | 730 |
88230, 88271, 88273, 88291 |
8478 |
Smith-Magenis Syndrome FISH | 730 |
88230, 88271, 88273, 88291 |
8479 |
SOTOS Syndrome FISH | 730 |
88230, 88271, 88273, 88291 |
8480 |
SRY Analysis FISH | 520 |
88230, 88271, 88273, 88291 |
8481 |
Telomeres FISH | 1060 |
88230, 88271X38, 88273, 88291 |
8482 |
Trichorhinophalangeal Syndrome FISH | 730 |
88230, 88271, 88273, 88291 |
8483 |
Williams Syndrome FISH | 520 |
88230, 88271, 88273, 88291 |
8484 |
Wolf-Hirschorn Syndrome FISH | 520 |
88230, 88271, 88273, 88291 |
8485 |
X-linked Ichthyosis/ Steroid Sulfatase Deficiency FISH | 520 |
88230, 88271, 88273, 88291 |
8486 |
DiGeorge Syndrome I (22q only) FISH | 730 |
88230, 88271, 88273, 88291 |
8495 |
FISH-Each Additional Probe | 130 |
88271 |
8500 |
Chromosome Analysis + AFP | 980 |
88269, 88235, 88280X2, 88285, 82106, 88291 |
8501 |
AFAFP (+AFP) | 50 |
82106 |
8502 |
AcHE | 80 |
82013 |
8510 |
Chromosome Analysis+ AFP + AchE (AMNIO) | 1190 |
88269, 88235, 88280x2, 88285, 82106, 88291, 82013 |
8520 |
Chromosome Analysis+ AFP + AchE + FH (AMNIO) | 1240 |
88269, 88235, 88280x2, 88285, 82106, 88291, 82013, 83030 |
8530 |
Chromosome Analysis, No AFP (AMNIO) | 960 |
88269, 88235, 88280x2, 88285 |
8600 |
Chromosome Analysis - Blood | 830 |
88262, 88230, 88289, 88291, 88280 |
8655 |
Chromosomal Microarray 180K (CMA) | Please contact Billing for more information | |
8656 |
Chromosomal Microarray 105K (CMA) Prenatal - Amniotic Cell Culture | Please contact Billing for more information | |
8657 |
Chromosomal Microarray 105K (CMA) Prenatal - Cultured Chorionic Villus Cells | Please contact Billing for more information | |
8659 |
Chromosomal Microarray 105K (CMA) Prenatal - Tissue | Please contact Billing for more information | |
8690 |
Heme/Onc Chip-44K Oligo Array | Please contact Billing for more information | |
8700 |
Chromosome Analysis (CVS) | 1090 |
88267, 88235, 88280x2, 88285, 88291 |
| 8710 |
Deletion 5: [MDS] FISH Analysis | 470 |
88230, 88271, 88273, 88291 |
| 8715 |
Deletion 7: [MDS] FISH Analysis | 470 |
88230, 88271, 88273, 88291 |
| 8720 |
Deletion 20q12: [MDS] FISH Analysis | 470 |
88230, 88271, 88273, 88291 |
| 8725 |
ETO/AML1: t(8;21) [AML] FISH Analysis | 570 |
88230, 88271, 88273, 88291 |
| 8730 |
CHIC2: Deleted 4q [hypereosinophilic syndrome] FISH Analysis | 570 |
88230, 88271, 88273, 88291 |
| 8735 |
PML/RARA: t(15;17) [AML] FISH Analysis | 570 |
88230, 88271, 88273, 88291 |
| 8740 |
CBFB: inv(16) [AML] FISH Analysis | 570 |
88230, 88271, 88273, 88291 |
| 8745 |
MLL: 11q23 FISH Analysis | 570 |
88230, 88271, 88273, 88291 |
| 8750 |
BCR/ABL: t(9;22) [CML/ALL/AML] FISH Analysis | 570 |
88230, 88271, 88273, 88291 |
| 8755 |
TEL/AML1: t(12;21) [ALL] FISH Analysis | 570 |
88230, 88271, 88273, 88291 |
| 8760 |
MYC translocation FISH Analysis | 570 |
88230, 88271, 88273, 88291 |
8765 |
IGH/BCL2: t(14;18) [follicular lymphoma] FISH Analysis | 570 |
88230, 88271, 88273, 88291 |
8770 |
IGH/CCND1: t(14;11) [mantle cell lymphoma] FISH Analysis | 570 |
88230, 88271, 88273, 88291 |
8800 |
Chromosome Analysis - Tissue Biopsy | 910 |
88262, 88233, 88291 |
8940 |
Herpes Simplex Virus, Type 1 & 2 DNA, Real-Time PCR | 310 |
87529x2 |
8945 |
Cytomegalovirus (CMV) DNA, Qualitative Real-Time PCR | 310 |
87496 |
8950 |
Toxoplasma (TOXO) gondii DNA, Qualitative Real-Time PCR | 310 |
87798 |
8955 |
Parvovirus (PARVO) B19 DNA, Qualitative Real-Time PCR | 310 |
87798 |
Revised 2/18/09