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Results: 1 to 20 of 69 (representing 28 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoCancer panel

Centogene AG - the Rare Disease Company
Germany
5231
  • C Sequence analysis of the entire coding region

CentoBreast (hereditary breast cancer) panel

Centogene AG - the Rare Disease Company
Germany
1013
  • C Sequence analysis of the entire coding region

Microcephaly Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
6478
  • C Sequence analysis of the entire coding region

BrainTumorNext

Ambry Genetics
United States
7727
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Vistaseq Hereditary Cancer Panel Without BRCA

Molecular Diagnostic Laboratory LabCorp
United States
1725
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

VistaSeq Hereditary Cancer Panel

Molecular Diagnostic Laboratory LabCorp
United States
1827
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NBN. Detection of the mutation c.657del5 by sequencing

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

NBN. Complete sequencing

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

Tier 2: Hereditary Lymphoma and Immunodeficiency Panel

Genetic Services Laboratory University of Chicago
United States
1723
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NBN. Complete sequencing

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

NBN. Detection of the mutation c.657_661del5 by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

NBS. Complete sequencing

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

NBS. Detection of the mutation c.657del5 by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

Nijmegen Breakage Syndrome via the NBN Gene

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

Chromosomal Instability Syndromes Sequencing Panel

PreventionGenetics
United States
108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia Telangiectasia (Nijmegen Breakage Syndrome) , Deletion NBN Gene

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

Nijmegen Breakage Syndrome , Sequencing NBN Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Male)

Baylor Miraca Genetics Laboratories
United States
164149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Female)

Baylor Miraca Genetics Laboratories
United States
175159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Syndromic Combined Immunodeficiency (CID) Panel

Invitae
United States
5637
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 69

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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