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Results: 1 to 20 of 136

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

very long chain fatty acids (cultured cells)

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

Fatty Acid Profile, Peroxisomal,P

Mayo Clinic Laboratories Mayo Clinic
United States
41
  • A Analyte

Fatty Acid Profile, Peroxisomal, S

Mayo Clinic Laboratories Mayo Clinic
United States
41
  • 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

LSD/X-ALD Newborn Screen, BS

Mayo Clinic Laboratories Mayo Clinic
United States
39
  • A Analyte

MVL Vision Panel

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

CentoMetabolic MOx

Centogene AG - the Rare Disease Company
Germany
195221
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ABCD1 - Sanger sequencing

Centogene AG - the Rare Disease Company
Germany
11
  • C Sequence analysis of the entire coding region

ABCD1 - Sanger sequencing

Centogene AG - the Rare Disease Company
Germany
11
  • C Sequence analysis of the entire coding region

Carrier Screening Guidelines-Based Panel

Ambry Genetics
United States
199164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoMito Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
406414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia / Spastic Paraplegia Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
451452
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia / Spastic Paraplegia Panel

Centogene AG - the Rare Disease Company
Germany
442443
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 136

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.