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Results: 1 to 20 of 73 (representing 37 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Homocystinuria - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Homocystinuria - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Homocystinuria - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

Deficiency Cistationina B-Synthase

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
11
  • X Mutation scanning of select exons

Homocystinuria

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

CBS Sequence Analysis

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • T Targeted variant analysis

Comprehensive Cardiology Sequencing Panel

PreventionGenetics
United States
190164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Aortic diseases Panel

Health in Code S.L.
Spain
7135
  • C Sequence analysis of the entire coding region

Homocystinuria via the CBS Gene

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

Homocystinuria Sequencing Panel

PreventionGenetics
United States
55
  • 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

Aortic Valvular Diseases Panel

Health in Code S.L.
Spain
6030
  • C Sequence analysis of the entire coding region

CBS. Detection of the mutations p.Ile278Thr and p.Gly307Ser by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

CBS. Complete sequencing

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

CBS Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • C Sequence analysis of the entire coding region

CBS Prenatal Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • E Sequence analysis of select exons

CBS Familial Mutation/Variant Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • E Sequence analysis of select exons

Marfan Syndrome and Related Aortopathies Sequencing Panel

PreventionGenetics
United States
2322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 73

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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