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Results: 1 to 20 of 64

Tests names and labsConditionsGenes, analytes, and microbesMethods

C26:0 Lyso-phosphatidylcholine

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

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

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

Pipecolic Acid, U

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • A Analyte

Pipecolic Acid, S

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • A Analyte

Fatty Acid Profile, Peroxisomal,P

Mayo Clinic Laboratories Mayo Clinic
United States
41
  • A Analyte

Plasmalogens, BS

Mayo Clinic Laboratories Mayo Clinic
United States
31
  • A Analyte

Plasmalogens, RBC

Mayo Clinic Laboratories Mayo Clinic
United States
31
  • A Analyte

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

OtoSCOPE v9

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
288218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

Peroxisomal Disorder Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
428
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Peroxisome Biogenesis Disorder Type 4

Myriad Genetics, Inc.
United States
31
  • C Sequence analysis of the entire coding region

Amino acid, urine, quantitative

IU Genetic Testing Laboratories Indiana University School of Medicine
United States
1141
  • A Analyte

Amino acid, plasma, quantitative

IU Genetic Testing Laboratories Indiana University School of Medicine
United States
834
  • A Analyte

MVL Vision Panel

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

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
289481
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 64

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.