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Results: 1 to 20 of 80 (representing 42 labs)

Tests names and labsConditionsGenes and analytesMethods

Adrenoleukodystrophy, x-linked

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

C26:0 Lyso-phosphatidylcholine

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

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7851205
  • C Sequence analysis of the entire coding region

Adrenoleukodystrophy/Adrenomyeloneuropathy

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

Adrenoleukodystrophy

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

plasma very long chain fatty acids, phytanic and pristanic

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

Ataxia Exome Panel

Genetic Services Laboratory University of Chicago
United States
287480
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegia Exome Panel

Genetic Services Laboratory University of Chicago
United States
1956
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel

PreventionGenetics
United States
299280
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

X-Linked Intellectual Disability Sequencing Panel

PreventionGenetics
United States
8081
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Neurogenetics Panel (359 genes)

Sherbrooke Genomic Medicine
Canada
6035
  • C Sequence analysis of the entire coding region

Peroxisomal Disorders Sequencing Panel

PreventionGenetics
United States
3222
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

X-Linked Adrenoleukodystrophy via the ABCD1 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ABCD1. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

ABCD1. MLPA testing

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 80

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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