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Tests

The lab offers a broad range of test options; search for a test below, or download a printable copy of the basic test list. Test fees and CPT codes apply to routine testing on blood, saliva and DNA samples. Contact us for information on testing other types of samples, including cultured fibroblasts, prenatal samples or frozen tissue, or if you are seeking targeted testing for a known or familial variant.


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Test Names Syndrome Names Genes Tested
Acatalasemia Test

Acatalasemia

CAT
Adrenoleukodystrophy, X-linked Test

Adrenoleukodystrophy (X-Linked)

ABCD1
Alpha Methylacyl-CoA Racemase Deficiency Test

Alpha Methylacyl-CoA Racemase Deficiency

AMACR
Benign Hereditary Chorea Test

Benign Hereditary Chorea

NKX2-1
Choreoathetosis, Congenital Hypothyroidism, Neonatal Respiratory Distress Test

Choreoathetosis, Congenital Hypothyroidism, Neonatal Respiratory Distress Syndrome (also known as Brain-Lung-Thyroid Syndrome)

NKX2-1
Clinical Exome Sequencing Condition of unexplained suspected genetic etiology N/A
Comprehensive Peroxisomal Genes NGS Panel

Zellweger Spectrum Disorders; Neonatal Adrenoleukodystrophy; Refsum Disease; Rhizomelic Chondrodysplasia Punctata, Types 1, 2, and 3; Peroxisomal Beta-Oxidation Defects; Several rare single peroxisomal enzyme defects

ACOX1; AGPS; AGXT; AMACR; CAT; DNM1L; GNPAT; HSD17B4; PEX1; PEX2; PEX3; PEX5; PEX6; PEX7; PEX10; PEX12; PEX13; PEX14; PEX16; PEX19; PEX26; PHYH; SCP2; TRIM37
Cystic Fibrosis and CF-Related Disorders NGS Panel

Cystic Fibrosis; Pseudohypoaldosteronsim Type 1 (autosomal recessive); Carbonic Anhydrase XII deficiency

CA12; CFTR; SCNN1A; SCNN1B; SCNN1G
Cystic Fibrosis Intron 8 T and G tract Typing

Cystic Fibrosis

CFTR (selected regions)
Cystic Fibrosis Linkage Analysis

Cystic Fibrosis

CFTR
Cystic Fibrosis Test

Cystic Fibrosis

CFTR
Cystic Fibrosis-Related Disorders NGS Panel (excludes CFTR)

Pseudohypoaldosteronsim Type 1 (autosomal recessive); Carbonic Anhydrase XII deficiency

CA12; SCNN1A; SCNN1B; SCNN1G
Duchenne and Becker Muscular Dystrophy Linkage Analysis

Duchenne Muscular Dystrophy; Becker Muscular Dystrophy

DMD
Hereditary Non-Syndromic Sensorineural Hearing Loss Test Hereditary Non-Syndromic Sensorineural Hearing Loss GJB2; GJB6
Huntington Disease Test

Huntington Disease

HTT
Huntington Disease-Like 2 Test

Huntington Disease-Like 2 (HDL2)

JPH3
ImmunoZoom See test page
Mulibrey Nanism Test

Mulibrey Nanism

TRIM37
Neonatal Respiratory Distress NGS Panel

Neonatal Respiratory Distress; ABCA3-Related Surfactant Deficiency; Surfactant Protein B Deficiency; Surfactant Protein C Deficiency; Alveolar Capillary Displasia with Misalignment of Pulmonary Veins; Choreoathetosis, Congenital Hypothyroidism, Neonatal Respiratory Distress Syndrome

ABCA3; FOXF1; NKX2-1; SFTPB; SFTPC
Peroxisomal Beta-Oxidation Defects NGS Panel

Peroxisomal Beta-Oxidation Defects

ACOX1; HSD17B4; SCP2
Primary Hyperoxaluria Type 1 Test

Primary Hyperoxaluria Type 1

AGXT
Pseudohypoaldosteronism Type 1 NGS Panel

Pseudohypoaldosteronism (PHA) Type 1 (autosomal dominant and autosomal recessive)

NR3C2; SCNN1A; SCNN1B; SCNN1G
Pseudohypoparathyroidism Type 1A (PHP 1a) and Spectrum Test

Albright Hereditary Osteodystrophy; Pseudohypoparathyroidism, Type 1A (PHP1A), Pseudopseudohypoparathyroidism (PPHP)

GNAS
Pseudohypoparathyroidism Type 1b (PHP1b) Test

Pseudohypoparathyroidism Type 1b

GNAS
PulmZoom

Diffuse lung disease

See test page
Refsum Disease NGS Panel

Refsum Disease

PEX7; PHYH
RenalZoom See test page
Rhizomelic Chondrodysplasia Punctata NGS Panel

Rhizomelic Chondrodysplasia Punctata (RCDP) Types 1, 2, and 3

AGPS; GNPAT; PEX7
SkeletalZoom See test page
TeloZoom

Telomere shortening disorders

ACD; CTC1; DKC1; NAF1; NHP2; NOP10; PARN; POT1; RTEL1; STN1; TERC; TERT; TINF2; WRAP53
Zellweger Spectrum Disorders (ZSD) + Peroxisomal Beta-Oxidation Defects NGS Panel

Zellweger Spectrum Disorders; Peroxisomal Beta-Oxidation Defects

ACOX1; DNM1L; HSD17B4; PEX1; PEX2; PEX3; PEX5; PEX6; PEX10; PEX12; PEX13; PEX14; PEX16; PEX19; PEX26; SCP2
Zellweger Spectrum Disorders NGS Panel

Zellweger Spectrum Disorders; Infantile Refsum Disease; Neonatal Adrenoleukodystrophy

DNM1L; PEX1; PEX2; PEX3; PEX5; PEX6; PEX10; PEX12; PEX13; PEX14; PEX16; PEX19; PEX26