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Houston, Texas

Genetic Laboratory
Baylor Genetics Laboratories
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Medical Genetics Test Services

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The American Medical Association (AMA) Current Procedural Terminology (CPT) codes and Healthcare Common Procedure Coding System (HCPCS) codes listed, are provided for informational purposes only. The codes reflect our interpretation of CPT/HCPCS coding requirements based upon AMA guidelines published annually. CPT/HCPCS codes are provided only as guidance to assist clients with billing. Baylor Genetics strongly recommends that clients confirm CPT/HCPCS codes with their Medicare Administrative Contractor (MAC) or other payer being billed, as requirements may differ. CPT coding is the sole responsibility of the billing party. Baylor Genetics assumes no responsibility for billing errors due to reliance on the CPT codes listed. Please direct any questions regarding CPT coding to the payer being billed.
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  11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia (CYP11B1)
  17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia (CYP17A1)
  2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD17B10)
  3 - Methylcrotonyl-CoA Carboxylase Deficiency - MCCC1 Related
  3 - Methylcrotonyl-CoA Carboxylase Deficiency - MCCC2 Related
  3-Methylcrotonyl-CoA Carboxylase Deficiency Panel (MCCC1, MCCC2)
  3-Methylglutaconic Aciduria Type I (AUH)

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A
  ABCA4 - Related Disorders
  Acetyl-CoA Carboxylase Deficiency (ACACA)
  Achondroplasia
  Acute Recurrent Myoglobinuria - LPIN1 Related
  Acylcarnitine Analysis - Plasma
  Acyl-CoA Dehydrogenase 9 Deficiency (ACAD9)
  Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency (ACADSB)
  Additional Affected Sibling for Trio
  Adenine Phosphoribosyltransferase Deficiency (APRT)
  Adenosine Deaminase Deficiency (ADA)
  Adenylosuccinase Deficiency (ADSL)
  Adrenoleukodystrophy (ABCD1)
  Adult Screening Exome Sequencing
  Aggressive/High-Grade B-Cell Lymphoma Panel
  Alagille Syndrome (JAG1)
  Albinism (13 gene panel by NGS)
  ALK Gene Rearrangement by FISH Analysis
  ALPL Related Disorders
  Amino Acid Analysis - Cerebrospinal Fluid
  Amino Acid Analysis - Plasma
  Amino Acid Analysis - Urine
  Androgen Insensitivity Syndrome
  Angelman Syndrome
  APC - Associated Polyposis Conditions
  Arginase Deficiency
  Arginine: Glycine Amidinotransferase (GATM) Deficiency (AGAT)
  Argininosuccinate Lyase Deficiency
  ARX - Related Disorders
  Arylsulfatase A Deficiency [Metachromatic Leukodystrophy]
  Aspartylglycosaminuria (AGA)
  ATP5A1 Related disorders
  Autism Panel - Biochemistry 3-Plex
  Autoimmune Polyendocrinopathy 1

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B
  B4GALT7 Related Disorders
  Bardet-Biedl Syndrome (18 gene panel by NGS)
  B-Cell Clonality Screening (IgH and IgK) by PCR
  BCR-ABL1 Mutation Analysis for Tyrosine Kinase Inhibitor Resistance by Next Generation Sequencing
  BCR-ABL1, Major (p210), Quantitative
  BCR-ABL1, Minor (p190), Quantitative
  BCR-ABL1, Qualitative Analysis with Reflex to BCR-ABL1 Quantitative
  BCS1L - Related Disorders
  BEST1-Related Retinitis Pigmentosa
  Biochemistry 5-Plex Autism Panel
  Biotinidase Deficiency
  Bloom Syndrome
  BluePrint Panel
  BluePrint Proband Whole Exome Sequencing
  BRAF - Related Disorders
  BRAF V600 Mutation Analysis
  BRCA1 Related Disorders; BRCA 2 Related Disorders
  Buschke-Ollendorff Syndrome (LEMD3)

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C
  C10orf2 (TWINKLE) - Related Disorders
  C2orf71-Related Retinitis Pigmentosa
  CA4-Related Retinitis Pigmentosa
  CALR (Calreticulin) Exon 9 Mutation Analysis by PCR
  Camurati-Engelmann Disease (TGFB1)
  Carbamoyl Phosphate Synthetase Deficiency (CPS1)
  Carnitine Acylcarnitine Translocase (CACT) Deficiency (SLC25A20 )
  Carnitine Deficiency, Systemic (SLC22A5 (OCTN2))
  Carnitine Determination - Plasma
  Carnitine Palmitoyltransferase IA Deficiency (CPT1A )
  Carnitine Palmitoyltransferase II Deficiency (CPT2)
  CDH23 - Related Disorders
  CDKL5 - Related Disorders
  CEBPA Mutation Detection
  CEP290-Related Retinitis Pigmentosa
  CFTR - 5T Variant Analysis
  CFTR Sequence Analysis
  CHD7 - Related Disorders
  Cholestasis Panel by NGS (7 gene panel by NGS)
  CHRNA7 - Related Disorders
  Chromosomal Microarray Analysis
  Chromosomal Microarray Analysis - HR
  Chromosomal Microarray Analysis - HR + SNP Screen (Comprehensive)
  Chromosome Analysis - Blood
  Chromosome Analysis - Prenatal - Amniotic Fluid
  Chromosome Analysis - Prenatal - Amniotic Fluid with ACHE
  Chromosome Analysis - Prenatal - Amniotic Fluid with AFP
  Chromosome Analysis - Prenatal - CVS
  Chromosome Analysis - Tissue
  Citrin Deficiency (SLC25A13)
  ClariFindTM FISH Panel
  Cleidocranial Dysplasia
  CMA-Expanded and Limited Karyotype - Prenatal - Amniotic Fluid
  CMA-Expanded and Limited Karyotype - Prenatal - CVS
  CMA-Targeted and Limited Karyotype - Prenatal - Amniotic Fluid
  CMA-Targeted and Limited Karyotype - Prenatal - CVS
  CNGB1-Related Retinitis Pigmentosa
  Cobalamin Metabolism Panel (20 gene panel by NGS)
  Coenzyme Q10 Deficiency - CABC1 (ADCK3) Related
  Coenzyme Q10 Deficiency - COQ2 Related (COQ2, CL640, FLJ26072)
  Coenzyme Q10 Deficiency - PDSS2 Related (PDSS2, bA59I9.3)
  COL1A1/2 Related Disorders (2 gene panel by NGS)
  COL2A1 - Related Disorders
  Combined Malonic & Methylmalonic Aciduria (ACSF3)
  Combined Oxidative Phosphorylation Deficiency - TSFM Related (EF-TS, EF-Tsmt)
  Combined Oxidative Phosphorylation Deficiency 1 (GFM1)
  Combined Oxidative Phosphorylation Deficiency 5 (MRPS22)
  Combined Oxidative Phosphorylation Deficiency 7 (C12orf65)
  Combined Oxidative Phosphorylation Deficiency 8 (AARS2)
  Common Hereditary Cancer Panel (43-gene panel by NGS)
  Comprehensive Autism Panel - Female Specific
  Comprehensive Autism Panel - Male Specific
  Comprehensive Hereditary Cancer Panel (94-gene panel by NGS)
  Cone-rod Dystrophy 15 (CDHR1)
  Congenital Disorder of Glycosylation, Type Iv (NGLY1)
  Congenital Disorders of Glycosylation - CDG Panel (36 gene panel by NGS)
  Congenital Disorders of Glycosylation MPI Related
  Congenital Disorders of Glycosylation PMM2 Related
  Congenital Disorders of Glycosylation Type Ik
  Congenital Disorders of Glycosylation Type Im (DOLK)
  Congenital Hypothyroidism, IYD-Related
  CoQ10 Deficiency (5 gene panel by NGS)
  Coronary Heart Disease Risk Factor (9p21 rs10757278)
  Costello Syndrome - HRAS Related
  COX10 - Related Disorders
  COX15 - Related Disorders
  CPT1B - Related Disorders
  CRB1-Related Retinitis Pigmentosa
  Creatine and Guanidinoacetate Determination - Plasma
  Creatine and Guanidinoacetate Determination - Urine
  Creatine Panel
  Creatine Transporter Deficiency - SLC6A8 Related
  Critical Trio Whole Exome Sequencing
  CRX-Related Retinitis Pigmentosa
  Custom Family Sequence Analysis
  Custom Proband Sequence Analysis
  Custom Sequence Analysis - Prenatal
  Custom Sequence Analysis - Proband

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D
  Deafness-Dystonia-Optic Neuronopathy Syndrome - TIMM8A
  Developmental Glaucoma (8 gene panel by NGS)
  DFNB31 Sequence Analysis
  DGUOK - Related Disorders
  DHDDS-Related Retinitis Pigmentosa
  Diamond Blackfan Anemia - RPS19 Related
  DiGeorge Syndrome (TBX1)
  Dual Genome Leigh Disease (128 gene panel by NGS)
  Dystrophinopathies (DMD)

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E
  EGFR FISH Analysis
  EGFR Mutation Detection by Pyrosequencing
  Ehlers-Danlos Syndrome, Classic Type - COL5A1 Related
  Ehlers-Danlos Syndrome, Classic Type - COL5A2 Related
  Ehlers-Danlos Syndrome, Kyphoscoliotic Form - PLOD1 Related
  EIF2B5 - Related Leukoencephalopathy with Vanishing White Matter
  Epileptic Encephalopathy, Early Infantile, 4
  Epimerase Deficiency Galactosemia (GALE)
  Ethylmalonic Encephalopathy (ETHE1)
  Exome Sequencing Reanalysis
  Expanded Chromosomal Microarray Analysis - Prenatal - Amniotic Fluid
  Expanded Chromosomal Microarray Analysis - Prenatal - CVS
  EYS-Related Retinitis Pigmentosa

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F
  Fabry Disease
  Factor V Leiden
  FAM161A-Related Retinitis Pigmentosa
  FAM20C Related Disorders
  Familial Exudative Vitreoretinopathy (4 gene panel by NGS)
  Familial Hypercholesterolemia
  Familial Thrombocytopenia with Propensity to Acute Myelogenous Leukemia
  FARS2 Related disorders
  FASTKD2 - Related Disorders
  Fatty Acid Oxidation Deficiency (22 gene panel by NGS)
  FH - Related Disorders
  FISH Analysis - Charcot-Marie-Tooth Neuropathy Type 1A
  FISH Analysis - Chromosome X and Y Centromere Analysis
  FISH Analysis - Custom Familial FISH Studies
  FISH Analysis - DiGeorge/Velocardiofacial Syndrome Panel (22q and 10p)
  FISH Analysis - DiGeorge/Velocardiofacial Syndrome Type I (22q)
  FISH Analysis - Hereditary Neuropathy with Liability to Pressure Palsies
  FISH Analysis - Langer-Giedion Syndrome Panel (EXT1 and TRPS1)
  FISH Analysis - Neurofibromatosis Type I
  FISH Analysis - Prenatal Aneuploidy
  FISH Analysis - SRY Related Phenotypes
  FLT3 Mutation Analysis
  FMR1 - Related Disorders
  Focal Dermal Hypoplasia
  FOXF1 - Related Disorders
  Friedreich Ataxia (FRDA)
  Fructose 1,6 Bisphosphatase Deficiency (FBP1)
  FSCN2-Related Retinitis Pigmentosa

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G
  Galactokinase Deficiency (GALK1)
  Galactosemia (GALT)
  Gastrointestinal Stromal Tumor Mutation
  GBE1 - Related Disorders
  GeneAware ACMG/ACOG Panel Version 2 (Female) GeneAware
  GeneAware ACMG/ACOG Panel Version 2 (Male) GeneAware
  GeneAware Ashkenazi Jewish Panel Version 2 (Female) GeneAware
  GeneAware Ashkenazi Jewish Panel Version 2 (Male) GeneAware
  GeneAware Basic Panel Version 2 (Female) GeneAware
  GeneAware Basic Panel Version 2 (Male) GeneAware
  GeneAware Complete Panel Version 2 (Female) GeneAware
  GeneAware Complete Panel Version 2 (Male) GeneAware
  Global Metabolomic Assisted Pathway Screen (Global MAPS)®
  Glucose Transporter Type 1 Deficiency Syndrome
  Glutaric Acidemia Type 1 (GCDH)
  Glutaric Acidemia Type 3 (C7orf10)
  Glycine Encephalopathy (AMT)
  Glycogen Storage Disease Type 0, Liver Isoform (GYS2)
  Glycogen Storage Disease Type 0, Muscle Isoform (GYS1)
  Glycogen Storage Disease Type I (b,c,d) (SLC37A4)
  Glycogen Storage Disease Type Ia (G6PC , GSD1a)
  Glycogen Storage Disease Type II (GAA)
  Glycogen Storage Disease Type III (AGL)
  Glycogen Storage Disease Type IX - PHKG2 Related
  Glycogen Storage Disease Type V (PYGM)
  Glycogen Storage Disease Type VI (PYGL)
  Glycogen Storage Disease Type VII (PFKM)
  Glycogen Storage Disease Type X (PGAM2)
  Glycogen Storage Disease Type XI (LDHA)
  Glycogen Storage Disease Type XIII (ENO3)
  Glycogen Storage Disease Type XIV (PGM1)
  Glycogen Storage Disorder - Comprehensive Panel (23 gene panel by NGS)
  Glycogen Storage Disorder - Liver Panel by NGS (13 gene panel by NGS)
  Glycogen Storage Disorder - Muscle Panel by NGS (13 gene panel by NGS)
  GNE Related Disorders
  Guanidinoacetate Methyltransferase Deficiency (GAMT)
  Gyrate Atrophy of Choroid and Retina (OAT)

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H
  HADHA - Related Disorders
  HADHB - Related Disorders
  HARS2 Related disorders
  Hemochromatosis Panel
  Hemochromatosis Type 1
  Hemochromatosis Type 2 A
  Hemochromatosis Type 2 B
  Hemochromatosis Type 3
  Hemochromatosis Type 4
  Hereditary Brain/CNS/PNS Cancer Panel (25-gene panel by NGS)
  Hereditary Breast/Ovarian/Endometrial Cancer Panel (27-gene panel by NGS)
  Hereditary Colorectal/Gastrointestinal Cancer Panel (36-gene panel by NGS)
  Hereditary Endocrine Cancer Panel (22-gene panel by NGS)
  Hereditary Fructose Intolerance (ALDOB)
  Hereditary Hearing Loss and Deafness - GJB2 Related
  Hereditary Hearing Loss and Deafness - GJB6 Related
  Hereditary High-Risk Breast Cancer Panel (9-gene panel by NGS)
  Hereditary High-Risk Colorectal Cancer Panel (22-gene panel by NGS)
  Hereditary Leukemia/Lymphoma Panel (18-gene panel by NGS)
  Hereditary Melanoma Panel (10-gene panel by NGS)
  Hereditary Neuralgic Amyotrophy (HNA) (SEPT9)
  Hereditary Pancreatic Cancer Panel (21-gene panel by NGS)
  Hereditary Paraganglioma/Pheochromocytoma Panel (12-gene panel by NGS)
  Hereditary Prostate Cancer Panel (12-gene panel by NGS)
  Hereditary Renal Cancer Panel (19-gene panel by NGS)
  Hexosaminidase A & B Enzyme Analysis
  Hexosaminidase A Deficiency
  HFE - Associated Hereditary Hemochromatosis
  HHH Syndrome (SLC25A15)
  High Bone Mass Panel by NGS
  HMG-CoA Lyase Deficiency (HMGCL)
  HNPCC - EPCAM Related
  HNPCC - MLH1 Related
  HNPCC - MSH2 Related
  HNPCC - MSH6 Related
  HNPCC - PMS2 Related
  HNRNPA1 Related Disorders
  Holocarboxylase Synthetase Deficiency (HLCS , HCS)
  Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (CBS)
  HPD Related Disorders
  Huntington Disease
  Hyperinsulinism (8 gene panel by NGS)
  Hyperinsulinism-Hyperammonemia Syndrome (GLUD1)
  Hypermethioninemia (GNMT)
  Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency (AHCY)
  Hyperprolinemia Type II
  Hypoglycemia (87 gene panel by NGS)
  Hypophosphatemic Nephrolithiasis/Osteoporosis, 1 (SLC34A1)

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I
  IGHV Mutation Analysis by Sequencing
  IKBKG Related Disorders
  IMPDH1-Related Retinitis Pigmentosa
  IMPG2-Related Retinitis Pigmentosa
  Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 2
  Incontinentia Pigmenti
  Intrahepatic Cholestasis - ABCB11 Related
  Intrahepatic Cholestasis - ABCB4 Related
  Intrahepatic Cholestasis - ATP8B1 Related
  Isobutyryl-CoA Dehydrogenase Deficiency (ACAD8)
  Isovaleric Acidemia (IVD)

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J
  JAK2 Exon 12 Mutation Analysis by PCR
  JAK2 Gene, V617F Mutation, Qualitative

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K
  KARS-Related Intermediate Charcot-Marie-Tooth Neuropathy
  KCNQ2 Related Disorders
  Kennedy Disease
  Ketothiolase Deficiency (ACAT1)
  Ketotic Hypoglycemia and Gluconeogenesis Panel (ALDOB, FBP1, GYS2, PC)
  KIF11-Related Disorders
  KIT (D816V) Mutation by PCR
  KIT Mutations in AML by Fragment Analysis and Sequencing
  KIT Mutations, Melanoma
  Krabbe Disease

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L
  LCA5-Related Leber Congenital Amaurosis
  LCAD Deficiency (ACADL)
  Leber Congenital Amaurosis Panel (19 gene panel by NGS)
  Leber Congenital Amaurosis, Calcium Binding Protein 4 Deficiency (CABP4)
  Leber Congenital Amaurosis, IQ Motif Containing B1 Deficiency (IQCB1)
  Leigh Disease (91 gene panel by NGS)
  Lesch-Nyhan Syndrome
  Leukoencephalopathy (DARS2)
  Li-Fraumeni Syndrome
  Liver Failure, Acute Infantile (TRMU)
  LMBRD1 (cblF)-Related Disorders
  Low Bone Mass Panel by NGS (23 gene panel by NGS)
  Lowe Syndrome
  LRAT-Related Retinitis Pigmentosa
  Lysosomal Acid Lipase Deficiency

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M
  Maple Syrup Urine Disease (4 gene panel by NGS)
  Maple Syrup Urine Disease Type 1A (BCKDHA)
  Maple Syrup Urine Disease Type 1B (BCKDHB)
  Maple Syrup Urine Disease Type 2 (DBT)
  Maple Syrup Urine Disease Type 3 (DLD)
  MARS2 Related Disorders
  Maturity-Onset Diabetes of the Young (MODY) (25 gene panel by NGS)
  MCAD Deficiency (ACADM)
  MECP2 - Related Disorders
  Menkes Disease (ATP7A)
  MERTK-Related Retinitis Pigmentosa
  Methylcobalamin Deficiency, cblG Type (MTR)
  Methylmalonic Acid - Plasma
  Methylmalonic Acidemia - 3 Gene Panel (MUT, MMAA, MMAB)
  Methylmalonic Acidemia - MCEE Related
  Methylmalonic Acidemia - MMAA Related (cblA)
  Methylmalonic Acidemia - MMAB Related (cblB)
  Methylmalonic Acidemia - MMADHC Related
  Methylmalonic Acidemia - MUT Related
  MGMT Methylation Detection by PCR
  Microphthalmia, Isolated 5 Disorder (MFRP)
  Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR
  Mitochondrial Complex I Deficiency - NDUFB8 Related
  Mitochondrial Complex I Deficiency-FOXRED1 Related
  Mitochondrial Complex I Deficiency-NDUFA11 Related
  Mitochondrial Complex I Deficiency-NDUFAF3 Related
  Mitochondrial Complex I Deficiency-NUBPL Related
  Mitochondrial Complex II Deficiency, SDHAF1 Related
  Mitochondrial Complex III Deficiency-TTC19 Related
  Mitochondrial Complex IV Deficiency-COX4I1 Related
  Mitochondrial Complex IV Deficiency-TACO1 Related
  Mitochondrial Complex V Deficiency-ATP5E Related
  Mitochondrial Depletion Syndrome Panel (20 gene panel by NGS)
  Mitochondrial DNA Content (qPCR) Analysis - Liver
  Mitochondrial DNA Content (qPCR) Analysis - Skeletal Muscle
  Mitochondrial DNA Depletion Syndrome SUCLG2-Related
  Mitochondrial DNA Point Mutations and Deletions-NGS
  Mitochondrial Genome Comprehensive Analysis
  Mitochondrial Myopathy and Sideroblastic Anemia Type 1 (PUS1)
  Mitochondrial Myopathy and Sideroblastic Anemia Type 2 (YARS2)
  Mitochondrial Nonsyndromic Hearing Loss and Deafness Mutation Panel
  Mitochondrial Respiratory Chain Complex I Deficiency (25 nuclear gene panel by NGS)
  Mitochondrial Respiratory Chain Complex II Deficiency (6 nuclear gene panel
  Mitochondrial Respiratory Chain Complex III Deficiency (4 nuclear gene panel by NGS)
  Mitochondrial Respiratory Chain Complex IV Deficiency (12 nuclear gene panel by NGS)
  Mitochondrial Respiratory Chain Complex I-V Deficiency (50 nuclear gene pan
  Mitochondrial Respiratory Chain Complex V Deficiency (3 nuclear gene panel by NGS)
  Mitochondrial Respiratory Chain Enzyme Analysis (ETC) - Skeletal Muscle
  Mitochondrial Respiratory Chain Enzyme Analysis (ETC) - Skin Fibroblasts
  Mitochondrial/Metabolic (MitoMet®Plus) Microarray Analysis
  Mitochondrial/Metabolic (MitoMet®Plus) Microarray Analysis
  Mitome200-Dual Genome Panel by NGS (229 gene panel by NGS)
  Mitome200-Nuclear Gene Panel by NGS (192 gene panel by NGS)
  MMACHC (cblC) - Related Disorders
  MNGIE Syndrome (TYMP or ECGF1)
  Molybdenum Cofactor Deficiency - MOCS1 Related
  Molybdenum Cofactor Deficiency - MOCS2 Related
  MPL codon 515 Mutation Detection by Pyrosequencing, Quantitative
  MPV17 - Related Disorders
  MRPL44 Related disorders
  MTFMT Related disorders
  MTHFR Thermolabile Variant Analysis
  MTRR Related Disorders
  Mucopolysaccharidosis Type I
  Mucopolysaccharidosis Type II
  Mucopolysaccharidosis Type IVA
  Multiple Acyl-CoA Dehydrogenase Deficiency - ETFA Related
  Multiple Acyl-CoA Dehydrogenase Deficiency - ETFB Related
  Multiple Acyl-CoA Dehydrogenase Deficiency - ETFDH Related
  Multiple Acyl-CoA Dehydrogenase Deficiency Panel (ETFA, ETFB & ETFDH)
  Multiple Endocrine Neoplasia Type 1
  MUTYH (MYH) - Associated Polyposis
  MYD88 L265P Mutation Detection by PCR, Quantitative
  MYO7A - Related Disorders
  Myopathy with Deficiency of ISCU
  Myopathy/Rhabdomyolysis Panel by NGS (25 gene panel by NGS)
  Myotonic Dystrophy Type 1

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N
  N-Acetylglutamate Synthase Deficiency (NAGS)
  Nail-Patella Syndrome
  NARS2 Related disorders
  Neonatal and Infantile Seizures Panel
  Nephronophthisis (4 gene panel by NGS)
  Niemann-Pick Disease Type C - NPC1 Related
  Niemann-Pick Disease Type C - NPC2 Related
  Non-small Cell Lung Carcinoma Panel
  Nonsyndromic Hearing Loss and Deafness, X-Linked - POU3F4 Related
  Noonan - like Syndrome - SHOC2 Related
  Noonan Spectrum Disorders/RASopathy Panel (26-gene panel by NGS)
  Noonan Syndrome - NRAS Related
  Noonan Syndrome - SOS1 Related
  NR2E3-Related Retinitis Pigmentosa
  NRAS Mutation Detection by Pyrosequencing
  Nuclear Encoded ATPase Deficiency, TMEM70 Related
  Nuclear Encoded Complex I Deficiency - NDUFA1 Related (CI-MWFE, MWFE)
  Nuclear Encoded Complex I Deficiency - NDUFAF1 Related
  Nuclear Encoded Complex I Deficiency - NDUFAF2 Related (B17.2L, MMTN)
  Nuclear Encoded Complex I Deficiency - NDUFS3 Related
  Nuclear Encoded Complex I Deficiency - NDUFS4 Related
  Nuclear Encoded Complex I Deficiency - NDUFS6 Related
  Nuclear Encoded Complex I Deficiency - NDUFS8 Related
  Nuclear Encoded Complex I Deficiency - NDUFV1 Related
  Nuclear Encoded Complex I Deficiency-NDUFS1 Related

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O
  Obesity, Monogenic Nonsyndromic - LEP Related
  Obesity, Monogenic Nonsyndromic - LEPR Related
  Obesity, Monogenic Nonsyndromic - PCSK1 Related
  Obesity, Monogenic Nonsyndromic - POMC Related
  Ocular Albinism, X-linked
  Oculocutaneous Albinism Type 1
  Oculocutaneous Albinism Type 2
  Oculocutaneous Albinism Type 3
  Oculocutaneous Albinism Type 4
  Oncology Chromosome Analysis - Solid Tumor
  Oncology Chromosome Analysis-Hematologic Cancer
  Oncology FISH Analysis - 1p/19q Deletion
  Oncology FISH Analysis - ALL FISH Panel
  Oncology FISH Analysis - All Pediatric FISH Panel
  Oncology FISH Analysis - AML FISH Panel
  Oncology FISH Analysis - AML1/ETO(RUNX1/RUNX1T1): t(8;21) [AML]
  Oncology FISH Analysis - BCL2 Rearrangement
  Oncology FISH Analysis - BCL6 Rearrangement
  Oncology FISH Analysis - BCR/ABL: t(9;22) [CML/ALL/AML]
  Oncology FISH Analysis - CBFB: inv(16) [AML]
  Oncology FISH Analysis - CHIC2: Deleted 4q [Hypereosinophilic Syndrome]
  Oncology FISH Analysis - CLL FISH Panel
  Oncology FISH Analysis - Deletion 20q12 [MDS]
  Oncology FISH Analysis - Deletion 5 [MDS]
  Oncology FISH Analysis - Deletion 7 [MDS]
  Oncology FISH Analysis - DXZ1/DYZ3
  Oncology FISH Analysis - Eosinophilia FISH Panel
  Oncology FISH Analysis - ERBB2 (HER2/neu)
  Oncology FISH Analysis - Gain Chromosome 8
  Oncology FISH Analysis - IGH Rearrangement
  Oncology FISH Analysis - IGH/CCND1: t(11;14) [Mantle Cell Lymphoma]
  Oncology FISH Analysis - MALT1 Lymphoma
  Oncology FISH Analysis - MDS FISH Panel
  Oncology FISH Analysis - MET Amplification
  Oncology FISH Analysis - MLL: 11q23
  Oncology FISH Analysis - Multiple Myeloma FISH Panel
  Oncology FISH Analysis - MYC translocation
  Oncology FISH Analysis - NHL FISH Panel
  Oncology FISH Analysis - RET Rearrangement
  Oncology FISH Analysis - ROS1 Rearrangement
  Oncology FISH Analysis - SS18 FISH for Synovial Sarcoma
  Oncology FISH Analysis - TCF3/PBX1 FISH for ALL
  Oncology FISH Analysis - TEL/AMLI: t(12;21) [ALL]
  Oncology FISH Analysis- Multiple Myeloma IgH Rearrangement FISH Panel
  Oncology FISH Analysis p53
  OPA3 - Related Disorders (FLJ22187, MGA3)
  Organic Acid Screen - Urine
  Ornithine Transcarbamylase Deficiency (OTC)
  Osteogenesis Imperfecta - CRTAP Related
  Osteogenesis Imperfecta - LEPRE1 Related
  Osteogenesis Imperfecta, Type V (IFITM5)
  Osteopathia Striata with Cranial Sclerosis
  Osteopetrosis with Renal Tubular Acidosis (CA2)

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P
  PCDH15 Related Disorders
  PCDH19 - Related X-Linked Female-Limited Epilepsy w/MR
  PDE6B-Related Retinitis Pigmentosa
  PDH & Mitochondrial Respiratory Chain Complex V Deficiency (9 nuclear gene panel by NGS)
  PDHA1 - Related Disorders
  PD-L1 22C3 IHC for NSCLC by Immunohistochemistry with Interpretation, Pembrolizumab (KEYTRUDA)
  PD-L1 22C3 IHC with Combined Positive Score (CPS) Interpretation, pembrolizumab (KEYTRUDA)
  PD-L1 28-8 pharmDx by Immunohistochemistry with Interpretation, nivolumab (OPDIVO)
  Pelizaeus-Merzbacher-Like Disease
  Peroxisomal Disorders (22 gene panel by NGS)
  PGM3 Related Disorders (PGM3)
  Phenylalanine Hydroxylase Deficiency (PAH)
  Phenylbutyrate Metabolite Analysis
  PHEO and PGL Syndrome Panel (SDHB, SDHC, & SDHD)
  PLP1 - Related Disorders
  PML-RARA Translocation, t(15;17) by RT-PCR, Quantitative
  POLG - Related Disorders (POLG1, POLGA)
  POLG2 - Related Disorders
  Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract Disorder (ABHD12)
  Pontocerebellar Hypoplasia Type 6 (RARS2)
  Prader-Willi Syndrome
  Prader-Willi-like Syndrome; Intellectual Disability; Autism (MAGEL2)
  Prenatal Trio Whole Exome Sequencing
  PreSeek Non-invasive Prenatal Gene Sequencing Screen
  Primary Open Angle Glaucoma (2 gene panel by NGS)
  Proband Whole Exome Sequencing
  Proband Whole Exome Sequencing Plus CMA
  Progressive External Ophthalmoplegia - PEO Panel (10 gene panel by NGS)
  PROM1-Related Retinitis Pigmentosa
  Propionic Acidemia - PCCA Related
  Propionic Acidemia - PCCB Related
  Propionic Acidemia Panel (PCCA & PCCB)
  Prothrombin Mutation Panel
  Proximal Urea Cycle Disorders (3 gene panel by NGS)
  PRPF31-Related Retinitis Pigmentosa
  PRPH2-Related Retinitis Pigmentosa
  PTEN - Related Disorders
  PTPN11 - Related Disorders
  Pycnodysostosis (CTSK)
  Pyridoxine-Dependent Seizures
  Pyruvate Carboxylase Deficiency (PC)
  Pyruvate Dehydrogenase Deficiency (PDHB)
  Pyruvate Dehydrogenase E2 Deficiency (DLAT)
  Pyruvate Dehydrogenase E3-Binding Protein (Component X) Deficiency (PDHX)
  Pyruvate Dehydrogenase Phosphatase Deficiency (PDP1)

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Q

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R
  RAF1 - Related Disorders
  RAG2 Related Disorders
  Rapid FISH Analysis - AneuVysion® (+13/+18/+21 /X/Y)
  Rapid FISH Analysis - Sex Chromosome (X/SRY)
  Rapid Trio Whole Genome Sequencing
  RDH12-Related Retinitis Pigmentosa
  RECQL4 - Related Disorders
  RET - Related Disorders
  Retinitis Pigmentosa Panel (66 gene panel by NGS)
  Retinitis Pigmentosa, Autosomal Recessive, Bothnia Type (RLBP1)
  Rett Syndrome, Congenital Variant
  RGR-Related Retinitis Pigmentosa
  Rickets - Alopecia Syndrome
  RMRP - Related Disorders
  ROM1-Related Retinitis Pigmentosa
  RP2-Related Retinitis Pigmentosa
  RPE65-Related Retinitis Pigmentosa
  RRM2B - Related Disorders (RRM2B, p53R2)
  Rubinstein-Taybi Syndrome - CREBBP Related

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S
  SAG-Related Retinitis Pigmentosa
  SCAD Deficiency (ACADS)
  Schmid Metaphyseal Chondrodysplasia
  SCO1 - Related Disorders
  SCO2 - Related Disorders (SCO2 or SCO1L)
  SDHA - Related Disorders
  SDHB - Related Disorders
  SDHC - Related Disorders
  SDHD - Related Disorders
  Sequential Trio Whole Exome Sequencing
  Severe Combined Immunodeficiency, Athabascan Type
  Severe Combined Immunodeficiency, Autosomal Recessive, T- Negative/B-Positive Type
  Severe Combined Immunodeficiency, B Cell-Negative
  Shwachman-Bodian-Diamond Syndrome
  Sickle Cell Disease
  SLC25A4 (ANT1) - Related Disorders
  Smith-Lemli-Opitz Syndrome
  Smith-Magenis Syndrome
  Spastic Paraplegia 7, Autosomal Recessive (SPG7)
  Spinal Muscular Atrophy Diagnostic Test
  Spinocerebellar Ataxia Type 14 (PRKCG)
  Spondylocheirodysplasia, Ehlers-Danlos Syndrome (SLC39A13)
  SRY Molecular Analysis
  Succinic Semialdehyde Dehydrogenase Deficiency (ALDH5A1)
  SUCLA2 - Related Disorders
  SUCLG1 - Related Disorders
  Sulfocysteine Determination - Urine
  SURF1 - Related Disorders

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T
  Targeted Chromosomal Microarray Analysis - Prenatal - Amniotic Fluid
  Targeted Chromosomal Microarray Analysis - Prenatal - CVS
  Targeted mtDNA Analysis by Massively Parallel Sequencing (MitoNGSSM)
  Tay-Sachs Disease Carrier Testing (Serum)
  Tay-Sachs Disease Carrier Testing (WBC)
  TAZ - Related Disorders (BTHS, G4.5, XAP-2)
  T-Cell Clonality Screening by PCR
  TCIRG1-Related Autosomal Recessive Osteopetrosis
  Thrombophilia Mutation Panel
  Thymidine Determination - Plasma
  TK2 - Related Disorders
  TMLHE Deficiency
  TOPORS-Related Retinitis Pigmentosa
  Total BluePrint Panel
  TP53 Somatic Mutation, Prognostic
  Transcobalamin II Deficiency (TCN2)
  Trifunctional Protein Deficiency Panel (HADHA & HADHB)
  Trio Whole Exome Sequencing
  Trio Whole Genome Sequencing
  TSHR-Related Disorders
  Tyrosinemia Type II (TAT)
  Tyrosinemia, Type 1

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U
  Urea Cycle Disorders and Hyperammonemia (8 gene panel by NGS)
  Usher Panel (9 gene panel by NGS)
  Usher Syndrome 2A
  Usher Syndrome 3A - CLRN1 Related
  Usher Syndrome Type 1C (USH1C)

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V
  VLCAD Deficiency (ACADVL)
  Von Hippel Lindau Syndrome

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W
  White Blood Cell Cystine
  Wilson Disease (ATP7B)

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X
  X-Linked Severe Combined Immunodeficiency (IL2RG)

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Y

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Z

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