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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.
| 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 | 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 | 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 |
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