CPT CODES

Click highlighted test to link to appropriate CPT code information


Achondroplasia

alpha-thalassemia

beta-thalassemia

Angelman Syndrome (AS) Methylation Analysis

Angelman Syndrome (AS) Segregation Analysis

BCR-ABL Transcript Detection by Quantitative Real-Time PCR

Beckwith-Wiedemann Syndrome with Parents

Beckwith-Wiedemann Syndrome Proband Only

Charcot-Marie-Tooth Type 1A

Congenital Adrenal Hyperplasia (21-OH deficiency)

Cystic Fibrosis (CFTR)

Dentatorubral-Pallidoluysian Atrophy (DRPLA) / Haw River Syndrome (HRS)

Duchenne/Becker Muscular Dystrophy - Multiplex Deletion Analysis

Duchenne/Becker Muscular Dystrophy - Linkage Analysis

Factor V (Leiden)

Fragile X Syndrome (FMR1)

Friedreich's Ataxia (FRDA)

Galactosemia (GALT)

Hemoglobin C (HbC)

Hemophilia A (HEMA) / Factor VIII Deficiency) - Inversion Analysis

Hemophilia A (HEMA) / Factor VIII Deficiency) - Linkage Analysis

Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)

Huntington's Disease

Leber's Hereditary Optic Neuropathy (LHON)

Machado-Joseph Disease (MJD/SCA3)

Marfan Syndrome (MFS1) (LINKAGE ANALYSIS)

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)

Movement Disorder Mutation Screen

Multiple Endocrine Neoplasia Type 2A / Familial Medullary Thyroid Carcinoma

Myotonic Dystrophy (DM)

Neonatal Hypotonia Panel

Neurofibromatosis Type 1 (NF1)(LINKAGE ANALYSIS)

Prader-Willi Syndrome (PWS) - Methylation Analysis

Prader-Willi Syndrome (PWS) - Segregation Analysis

Rh Antigen Genotyping

Sexing

Sickle Cell Anemia (HbS)

Spinobulbar Muscular Atrophy (SBMA) / (Kennedy's Disease

Spinocerebellar Ataxia Type 1 (SCA I)

Spinocerebellar Ataxia Type 2 (SCA 2)

Spinocerebellar Ataxia Type 3 (SCA 3)

Spinocerebellar Ataxia Type 6 (SCA 6)

Spinocerebellar Ataxia Type 7 (SCA 7)

Spinal Muscular Atrophy Type I, II, III (SMA) - Deletion Analysis

Spinal Muscular Atrophy Type I, II, III (SMA) - Linkage Analysis

Williams Syndrome (WS) - Direct

Williams Syndrome (WS) - Segregation Analysis

Zygosity Testing

Achondroplasia MIM# 100800
  • molecular extraction x1 83891
  • enzymatic digestion x2 83892
  • separation x1 83894
  • nucleic acid probe/PCR x1 83898
  • interpretation and report x1 83912
  • alpha-thalassemia MIM# 141800
  • molecular extraction x1 83891
  • enzymatic digestion x2 83892
  • separation x4 83894
  • nucleic acid probe x2 83896
  • nucleic acid transfer x1 83897
  • nucleic acid PCR x2 83898
  • interpretation and report x1 83912
  • Angelman Syndrome (AS) Methylation Analysis MIM# 234400
  • molecular extraction x1 83891
  • enzymatic digestion x2 83892
  • separation x1 83894
  • nucleic acid probe x1 83896
  • nucleic acid transfer x1 83897
  • interpretation and report x1 83912
  • Angelman Syndrome (AS) Segregation Analysis MIM# 234400
  • molecular extraction x3 83891
  • separation x9 83894
  • nucleic acid PCR x9 83898
  • interpretation and report x1 83912
  • BCR-ABL Fusion Gene Transcript Detection MIM#151410
  • molecular extraction x1 83891
  • nucleic acid multiplex x1 83900
  • reverse transcription x1 83902
  • separation x1 83894
  • interpretation and report x1 83912
  • Beckwith-Wiedemann Syndrome with Parents
  • molecular extraction x3 83891
  • enzymatic digestion x3 83892
  • separation x12 83894
  • nucleic acid probe x1 83896
  • nucleic acid transfer x1 83897
  • nucleic acid PCR x9 83898
  • interpretation and report x1 83912
  • Beckwith-Wiedemann Syndrome Proband Only
  • molecular extraction x1 83891
  • enzymatic digestion x1 83892
  • separation x1 83894
  • nucleic acid probe x1 83896
  • nucleic acid transfer x1 83897
  • interpretation and report x1 83912
  • beta-thalassemia MIM# 141900
  • molecular extraction x1 83891
  • nucleic acid multiplex x1 83900
  • microarray x1 88385
  • interpretation and report x1 83912
  • Charcot-Marie-Tooth Type 1A MIM# 118220
  • molecular extraction x1 83891
  • enzymatic digestion x3 83892
  • separation x3 83894
  • nucleic acid probe x3 83896
  • nucleic acid transfer x3 83897
  • interpretation and report x1 83912
  • Congenital Adrenal Hyperplasia (21-OH deficiency) MIM# 201910
  • molecular extraction x1 83891
  • enzymatic digestion x4 83892
  • separation x9 83894
  • nucleic acid transfer x1 83897
  • nucleic acid probe x1 83896
  • nucleic acid probe/PCR x11 83898
  • interpretation and report x1 83912
  • Cystic Fibrosis (CFTR) MIM# 219700
  • molecular extraction x1 83891
  • nucleic acid multiplex x1 83900
  • microarray x1 88385
  • interpretation and report x1 83912
  • Dentatorubral-Pallidoluysian Atrophy (DRPLA) MIM# 125370
  • molecular extraction x1 83891
  • separation x1 83894
  • nucleic acid probe/PCR x1 83898
  • interpretation and report x1 83912
  • Duchenne/Becker Muscular Dystrophy (Linkage Analysis). MIM# 310200
  • molecular extraction x1 83891
  • separation x6 83894
  • nucleic acid multiplex x1 83900
  • nucleic acid multiplex x4 83901
  • interpretation and report x1 83912
  • Duchenne/Becker Muscular Dystrophy (Deletion Analysis) MIM# 310200
  • molecular extraction x1 83891
  • separation x2 83894
  • nucleic acid multiplex x1 83900
  • nucleic acid multiplex x1 83901
  • interpretation and report x1 83912
  • Factor V (Leiden) MIM# 227400.0001
  • molecular extraction x1 83891
  • enzymatic digestion x1 83892
  • separation x1 83894
  • nucleic acid probe/PCR x1 83898
  • interpretation and report x1 83912
  • Fragile X Syndrome (FMR1) MIM# 309550
  • molecular extraction x1 83891
  • enzymatic digestion x1 83892
  • separation x1 83894
  • nucleic acid probe x1 83896
  • nucleic acid transfer x1 83897
  • interpretation and report x1 83912
  • Friedreich's Ataxia (FRDA) MIM# 229300
  • molecular extraction x1 83891
  • enzymatic digestion x1 83892
  • separation x2 83894
  • nucleic acid probe x1 83896
  • nucleic acid transfer x1 83897
  • nucleic acid probe/PCR x1 83898
  • interpretation and report x1 83912
  • Galactosemia (GALT) MIM# 230400
  • molecular extraction x1 83891
  • enzymatic digestion x4 83892
  • separation x4 83894
  • nucleic acid probe/PCR x4 83898
  • interpretation and report x1 83912
  • Hemoglobin C (HbC) MIM# 141900*
  • molecular extraction x1 83891
  • separation x1 83894
  • nucleic acid probe/PCR x1 83898
  • interpretation and report x1 83912
  • Hemophilia A (HEMA) / Factor VIII Deficiency(Direct) MIM# 306700
  • molecular extraction x1 83891
  • enzymatic digestion x1 83892
  • separation x1 83894
  • nucleic acid probe x1 83896
  • nucleic acid transfer x1 83897
  • nucleic acid probe/PCR x1 83898
  • interpretation and report x1 83912
  • Hemophilia A (HEMA) / Factor VIII Deficiency)Linkage analysis.
  • molecular extraction x3 83891
  • separation x6 83894
  • nucleic acid probe/PCR x6 83898
  • interpretation and report x1 83912
  • Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) MIM# 118220
  • molecular extraction x1 83891
  • enzymatic digestion x3 83892
  • separation x3 83894
  • nucleic acid probe x3 83896
  • nucleic acid transfer x3 83897
  • interpretation and report x1 83912
  • Huntington's Disease MIM# 143100
  • molecular extraction x1 83891
  • separation x1 83894
  • nucleic acid probe/PCR x1 83898
  • interpretation and report x1 83912
  • Leber's Hereditary Optic Neuropathy (LHON) MIM# 308900
  • molecular extraction x1 83891
  • enzymatic digestion x5 83892
  • separation x5 83894
  • nucleic acid probe/PCR x4 83898
  • interpretation and report x1 83912
  • Machado-Joseph Disease (MJD/SCA3) MIM# 109150/183085
  • molecular extraction x1 83891
  • separation x1 83894
  • nucleic acid probe/PCR x1 83898
  • interpretation and report x1 83912
  • Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) MIM# 201450
  • molecular extraction x1 83891
  • enzymatic digestion x1 83892
  • separation x1 83894
  • nucleic acid probe/PCR x1 83898
  • interpretation and report x1 83912
  • Movement Disorder Mutation Screen
  • molecular extraction x1 83891
  • separation x9 83894
  • nucleic acid probe/PCR x9 83898
  • interpretation and report x1 83912
  • Multiple Endocrine Neoplasia Type 2A / 2B Familial Medullary Thyroid Carcinoma MIM# 164761/171400
  • molecular extraction x1 83891
  • separation x2 83894
  • nucleic acid probe/PCR x2 83898
  • nucleic acid sequencing x2 83904
  • interpretation and report x1 83912
  • Myotonic Dystrophy (DM) MIM# 160900
  • molecular extraction x1 83891
  • enzymatic digestion x1 83892
  • separation x1 83894
  • nucleic acid probe x1 83896
  • nucleic acid transfer x1 83897
  • nucleic acid probe/PCR x1 83898
  • interpretation and report x1 83912
  • Neonatal Hypotonia Panel
  • molecular extraction x2 83891
  • enzymatic digestion x2 83892
  • nucleic acid probe x1 83896
  • nucleic acid transfer x1 83897
  • reverse transcription x1 83902
  • nucleic acid probe/PCR x3 83898
  • separation x5 83894
  • nucleic acid multiplex x1 83900
  • nucleic acid multiplex x2 83901
  • interpretation and report x1 83912
  • Prader-Willi Syndrome (PWS) (Methylation) MIM# 176270
  • molecular extraction x1 83891
  • nucleic acid multiplex x1 83900 <
  • nucleic acid multiplex x1 83901
  • separation x1 83894
  • nucleic acid probe x1 83896
  • interpretation and report x1 83912
  • Prader-Willi Syndrome (PWS) (Segregation Analysis) MIM# 176270
  • molecular extraction x3 83891
  • separation x3 83894
  • nucleic acid probe/PCR x4 83898
  • interpretation and report x1 83912
  • Rh Antigen Genotyping MIM# 111680
  • molecular extraction x1 83891
  • separation x1 83894
  • nucleic acid multiplex x1 83900
  • interpretation and report x1 83912
  • Sexing
  • molecular extraction x1 83891
  • separation x1 83894
  • nucleic acid multiplex x1 83900
  • interpretation and report x1 83912
  • Sickle Cell Anemia (HbS) MIM# 141900
  • molecular extraction x1 83891
  • enzymatic digestion x1 83892
  • separation x1 83894
  • nucleic acid probe/PCR x1 83898
  • interpretation and report x1 83912
  • Spinobulbar Muscular Atrophy (SBMA; Kennedy's Disease) MIM# 313200
  • molecular extraction x1 83891
  • separation x1 83894
  • nucleic acid probe/PCR x1 83898
  • interpretation and report x1 83912
  • Spinocerebellar Ataxia Type 1 (SCA I) MIM# 164400
  • molecular extraction x1 83891
  • separation x1 83894
  • nucleic acid probe/PCR x1 83898
  • interpretation and report x1 83912
  • Spinocerebellar Ataxia Type 2 (SCA 2) MIM# 183090
  • molecular extraction x1 83891
  • separation x1 83894
  • nucleic acid probe/PCR x1 83898
  • interpretation and report x1 83912
  • Spinocerebellar Ataxia Type 3 (SCA 3) MIM# 183085
  • molecular extraction x1 83891
  • separation x1 83894
  • nucleic acid probe/PCR x1 83898
  • interpretation and report x1 83912
  • Spinocerebellar Ataxia Type 6 (SCA 6)
  • molecular extraction x1 83891
  • separation x1 83894
  • nucleic acid probe/PCR x1 83898
  • interpretation and report x1 83912
  • Spinocerebellar Ataxia Type 7 (SCA 7)
  • molecular extraction x1 83891
  • separation x1 83894
  • nucleic acid probe/PCR x1 83898
  • interpretation and report x1 83912
  • Spinal Muscular Atrophy Type I, II, III (SMA) - Deletion Analysis MIM# 253300
  • molecular extraction x1 83891
  • enzymatic digestion x1 83892
  • separation x2 83894
  • nucleic acid probe/PCR x2 83898
  • interpretation and report x1 83912
  • Spinal Muscular Atrophy Type I, II, III (SMA) - Linkage analysis MIM# 253300
  • molecular extraction x1 83891
  • separation x2 83894
  • nucleic acid probe/PCR x4 83898
  • interpretation and report x1 83912
  • Williams Syndrome (WS) Direct MIM# 194050
  • molecular extraction x1 83891
  • separation x4 83894
  • nucleic acid probe/PCR x4 83898
  • interpretation and report x1 83912
  • Williams Syndrome (WS) Segregation Analysis MIM# 194050
  • molecular extraction x3 83891
  • separation x12 83894
  • nucleic acid probe/PCR x12 83898
  • interpretation and report x1 83912