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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 samples only. 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 mutation. 


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* Select exons may be sequenced
Test Names Syndrome Names Genes Tested Compare Related Panels
Acatalasemia Test

Acatalasemia

CAT Peroxisomal Disorder Panels
Achondroplasia / Hypochondroplasia Panel

Achondroplasia; Hypochondroplasia

FGFR3 (selected exons)
Achondroplasia /Thanatophoric Dysplasia Panel

Thanatophoric Dysplasia, Types I and II; Achondroplasia

FGFR3 (selected exons)
Adrenoleukodystrophy, X-linked Test

Adrenoleukodystrophy (X-Linked)

ABCD1
Alpha Methylacyl-CoA Racemase Deficiency Test

Alpha Methylacyl-CoA Racemase Deficiency

AMACR Peroxisomal Disorder Panels
Antley-Bixler like Syndrome Panel

Antley Bixler-like Syndrome

FGFR2 (selected exons)
Apert Syndrome Test

Apert Syndrome

FGFR2 (selected exons)
Ataxia-Telangiectasia Test

Ataxia-Telangiectasia

ATM
Benign Hereditary Chorea Test

Benign Hereditary Chorea

NKX2-1
Campomelic Dysplasia Test

Campomelic Dysplasia

SOX9
Childhood Interstitial Lung Disease NGS Panel

Childhood Interstitial Lung Disease; ABCA3-related Surfactant Deficiency; Choreoathetosis, Congenital Hypothyroidism, Neonatal Respiratory Distress Syndrome (also known as Brain-Lung-Thyroid Syndrome or TTF1-Deficiency Syndrome);  Surfactant Protein C Deficiency 

ABCA3; NKX2-1; SFTPC Diffuse Lung Disease
Choreoathetosis, Congenital Hypothyroidism, Neonatal Respiratory Distress Test

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

NKX2-1 Diffuse Lung Disease
Comprehensive Diffuse Lung Disease NGS Panel

Diffuse Lung Disease; Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV); Childhood Interstitial Lung Disease; Choreoathetosis, Congenital Hypothyroidism, Neonatal Respiratory Distress Syndrome; Hermansky-Pudlak Syndrome associated with pulmonary fibrosis; Idiopathic Pulmonary Fibrosis; Inherited Surfactant Protein Deficiencies (SP-B, SP-C, ABCA3, SP-A2); Lysinuric Protein Intolerance; Neonatal Respiratory Distress Syndrome;  Pulmonary Alveolar Proteinosis

ABCA3; AP3B1; CSF2RA; CSF2RB; DKC1; FOXF1; HPS1; HPS4; NKX2-1; SFTPA2; SFTPB; SFTPC; SLC7A7; TERC; TERT; TINF2 Diffuse Lung Disease
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 Peroxisomal Disorder Panels
Coronal Synostosis Panel

Coronal Synostosis

FGFR2; FGFR3 (selected exons)
Craniofrontonasal Syndrome Test

Craniofrontonasal Syndrome

EFNB1
Crouzon Syndrome Panel

Crouzon Syndrome

FGFR2; FGFR3 (selected exons)
Crouzon Syndrome with Acanthosis Nigricans Test

Crouzon Syndrome with Acanthosis Nigricans

FGFR3 (selected exons)
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 and Clinically Related Disorders
Cystic Fibrosis Intron 8 T and G tract Typing

Cystic Fibrosis

CFTR (selected regions) Cystic Fibrosis and Clinically Related Disorders
Cystic Fibrosis Linkage Analysis

Cystic Fibrosis

CFTR Cystic Fibrosis and Clinically Related Disorders
Cystic Fibrosis Test

Cystic Fibrosis

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

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

CA12; SCNN1A; SCNN1B; SCNN1G Cystic Fibrosis and Clinically Related Disorders
Duchenne and Becker Muscular Dystrophy Linkage Analysis

Duchenne Muscular Dystrophy; Becker Muscular Dystrophy

DMD
Huntington Disease Test

Huntington Disease

HTT
Huntington Disease-Like 2 Test

Huntington Disease-Like 2 (HDL2)

JPH3
Idiopathic Pulmonary Fibrosis NGS Panel

Idiopathic Pulmonary Fibrosis; Choreoathetosis, Congeital Hypothyroidism, Neonatal Respiratory Distress Syndrome; Hermansky-Pudlak Syndrome associated with pulmonary fibrosis; Inherited Surfactant Protein Deficiencies (SP-B, SP-C, ABCA3); Pulmonary fibrosis related to telomere shortening disorders

ABCA3; AP3B1; DKC1; HPS1; HPS4; NKX2-1; SFTPA2; SFTPC; TERC; TERT; TINF2 Diffuse Lung Disease
Jackson-Weiss Syndrome Panel

Jackson-Weiss Syndrome

FGFR2; FGFR3 (selected exons)
Liddle Syndrome Panel

Liddle Syndrome; Familial Hypertension

SCNN1B; SCNN1G (selected exons)
Loeys-Dietz Syndrome Panel

Loeys-Dietz Aneurysm Syndrome, Types 1 and 2

TGFBR1; TGFBR2
Loeys-Dietz Syndrome, Type 3 Test

Aneurysm Osteoarthritis Syndrome; Loeys-Dietz Syndrome Type 3

SMAD3
Marfan Syndrome, Type 2 Test

Marfan Syndrome, Type 2

TGFBR2
Mulibrey Nanism Test

Mulibrey Nanism

TRIM37 Peroxisomal Disorder Panels
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 Diffuse Lung Disease
Oculodentodigital Dysplasia Test

Oculodentodigital Dysplasia (ODDD)

GJA1
Peroxisomal Beta-Oxidation Defects NGS Panel

Peroxisomal Beta-Oxidation Defects

ACOX1; HSD17B4; SCP2 Peroxisomal Disorder Panels
Pfeiffer Syndrome Panel

Pfeiffer Syndrome

FGFR1; FGFR2; FGFR3 (selected exons)
Primary Hyperoxaluria Type 1 Test

Primary Hyperoxaluria Type 1

AGXT Peroxisomal Disorder Panels
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
Pulmonary Alveolar Proteinosis NGS Panel

Pulmonary Alveolar Proteinosis; Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV); Choreoathetosis, Congenital Hypothyroidism, Neonatal Respiratory Distress Syndrome (also known as Brain-Lung-Thyroid Sydrome); Surfactant Protein B Deficiency; Surfactant Protein C Deficiency; ABCA3-related Surfactant Deficiency; Lysinuric Protein Intolerance; CSF2RA- and CSF2RB- related pulmonary alveolar proteinosis (also known as Surfactant Metabolism Dysfunction, pulmonary 4 and 5) 

ABCA3; CSF2RA; CSF2RB; FOXF1; NKX2-1; SFTPB; SFTPC; SLC7A7 Diffuse Lung Disease
Refsum Disease NGS Panel

Refsum Disease

PEX7; PHYH Peroxisomal Disorder Panels
Rhizomelic Chondrodysplasia Punctata NGS Panel

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

AGPS; GNPAT; PEX7 Peroxisomal Disorder Panels
Saethre-Chotzen Syndrome Panel

Saethre-Chotzen Syndrome

FGFR2; FGFR3 (selected exons); TWIST
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans Test

Severe Achondroplasia, Developmental Delay, Acanthosis Nigricans (SADDAN)

FGFR3 (selected exons)
Telomere Shortening Disorders Spectrum NGS Panel

Aplastic Anemia-Myelodysplastic Syndrome; Hoyeraal-Hreidarsson Syndrome; Telomere Shortening Disorders Spectrum; Pulmonary Fibrosis, Telomere-Related; Coats plus syndrome; Revesz Syndrome; Dyskeratosis Congenita

CTC1; DKC1; NHP2; NOP10; TERC; TERT; TINF2; WRAP53
Treacher Collins Syndrome NGS Panel

Treacher Collins Syndrome

POLR1C; POLR1D; TCOF1
von Hippel-Lindau Syndrome Test

von Hippel-Lindau Syndrome

VHL
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 Peroxisomal Disorder Panels
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 Peroxisomal Disorder Panels