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Results: 1 to 20 of 43 (representing 21 labs)

Tests names and labsConditionsGenes and analytesMethods

Bardet-Biedl syndrome type 2

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

Disorders of Sex Development Sequencing Panel

PreventionGenetics
United States
6469
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Disorders of Sex Development and Infertility Sequencing Panel

PreventionGenetics
United States
8696
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Male Infertility Sequencing Panel

PreventionGenetics
United States
7380
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Female Infertility Sequencing Panel

PreventionGenetics
United States
7683
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qCarrier Plus

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

Bardet-Biedl Syndrome (BBS): BBS2 (Known Mutation)

Molecular Diagnostic Laboratory LabCorp
United States
11
  • E Sequence analysis of select exons

Bardet-Biedl Syndrome (BBS): Two-gene Profile (BBS1, BBS2) (Full Gene Sequencing)

Molecular Diagnostic Laboratory LabCorp
United States
22
  • C Sequence analysis of the entire coding region

Bardet-Biedl Syndrome (BBS): BBS2 (Full Gene Sequencing)

Molecular Diagnostic Laboratory LabCorp
United States
11
  • C Sequence analysis of the entire coding region

KidneySeq: A Comprehensive Inherited Kidney Disease Panel

Iowa Institute of Human Genetics University of Iowa
United States
124147
  • C Sequence analysis of the entire coding region

Ashkenazi Jewish diseases

Asper Biotech Asper Biotech Ltd.
Estonia
4337
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bardet-Biedl Syndrome via the BBS2 Gene

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

Bardet-Biedl Syndrome Sequencing Panel

PreventionGenetics
United States
2020
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bardet-Biedl Syndrome Type 2 , Sequencing BBS2 Gene

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

GeneAware Ashkenazi Jewish Panel Version 2 (Male)

Baylor Miraca Genetics Laboratories
United States
4437
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware Ashkenazi Jewish Panel Version 2 (Female)

Baylor Miraca Genetics Laboratories
United States
4739
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Eye diseases comprehensive panel

Asper Biotech Asper Biotech Ltd.
Estonia
351275
  • C Sequence analysis of the entire coding region

Ciliopathy Focus Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
219152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 43

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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