Medical Genetics Laboratories at Baylor College of Medicine
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

Baylor College of Medicine ©1998-2009 Baylor College of Medicine
Medical Genetics Laboratories
Department of Molecular and Human Genetics
Mail: One Baylor Plaza, NAB 2015
Houston, TX 77030
Phone: 1-800-411-GENE (4363) | Fax: 713-798-2787 
E-mail: