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Results: 1 to 20 of 56

Tests names and labsConditionsGenes and analytesMethods

C26:0 Lyso-phosphatidylcholine

Genetics Laboratory, Peroxisomal Disorders Section Kennedy Krieger Institute
United States
41
  • A Analyte

pipecolic acid

Genetics Laboratory, Peroxisomal Disorders Section Kennedy Krieger Institute
United States
21
  • A Analyte

red blood cell plasmalogens

Genetics Laboratory, Peroxisomal Disorders Section Kennedy Krieger Institute
United States
43
  • A Analyte

very long chain fatty acids (cultured cells)

Genetics Laboratory, Peroxisomal Disorders Section Kennedy Krieger Institute
United States
42
  • A Analyte
  • E Enzyme assay

Pristanic acid oxidase (cultured cells)

Genetics Laboratory, Peroxisomal Disorders Section Kennedy Krieger Institute
United States
31
  • E Enzyme assay

Phytanic acid oxidase (cultured cells)

Genetics Laboratory, Peroxisomal Disorders Section Kennedy Krieger Institute
United States
41
  • E Enzyme assay

j-FamilyReady Ashkenazi + Sephardic-Mizrahi Carrier Screen (95 genes)

EVOLVEGENE EvolveGene
United States
16595
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

j-FamilyReady Ashkenazi Carrier Screen (56 Genes)

EVOLVEGENE EvolveGene
United States
10256
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

plasma very long chain fatty acids, phytanic and pristanic

Genetics Laboratory, Peroxisomal Disorders Section Kennedy Krieger Institute
United States
43
  • A Analyte

peroxisomal plasmalogen synthesis (cultured cells)

Genetics Laboratory, Peroxisomal Disorders Section Kennedy Krieger Institute
United States
41
  • E Enzyme assay

Catalase Distribution in Cultured Cells

Genetics Laboratory, Peroxisomal Disorders Section Kennedy Krieger Institute
United States
11
  • A Analyte

MVL Vision Panel

Molecular Vision Laboratory
United States
342268
  • C Sequence analysis of the entire coding region

Zelweger Spectrum Disorder and Beta-Oxidation Defect NGS Panel

Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
716
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Rhizomelic Chondrodysplasia Punctata Spectrum Panel

Invitae
United States
83
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Adult Refsum Disease Panel

Invitae
United States
62
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Zellweger Spectrum Disorder Panel

Invitae
United States
3115
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Zellweger syndrome spectrum, PEX6-related

Integrated Genetics Westborough Integrated Genetics
United States
11
  • C Sequence analysis of the entire coding region

Zellweger syndrome spectrum, PEX10-related

Integrated Genetics Westborough Integrated Genetics
United States
11
  • C Sequence analysis of the entire coding region

Zellweger syndrome spectrum, PEX26-related

Integrated Genetics Westborough Integrated Genetics
United States
11
  • C Sequence analysis of the entire coding region

Zellweger syndrome spectrum, PEX12-related

Integrated Genetics Westborough Integrated Genetics
United States
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 56

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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