U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

Results: 1 to 20 of 78

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

MVL Vision Panel

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

Infertility Panel

Centogene US, LLC - The Rare Disease Company
United States
243238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

Centogene US, LLC - The Rare Disease Company
United States
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

BBS2 - NGS including CNV analysis

Centogene US, LLC - The Rare Disease Company
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Infertility Panel

Centogene AG - the Rare Disease Company
Germany
243238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

BBS2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Carrier Screening Guidelines-Based Panel

Ambry Genetics
United States
199165
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Carrier Screening Ashkenazi Jewish Panel

Ambry Genetics
United States
5148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Monogenic Obesity Panel

Invitae
United States
9268
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Neonatal Respiratory Distress Panel

Invitae
United States
163111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Limb and Digital Malformations Panel

Invitae
United States
367178
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Polydactyly and Syndactyly Panel

PreventionGenetics
United States
320231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Polydactyly Panel

PreventionGenetics
United States
231139
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bardet-Biedl syndrome 2, 615981, Autosomal recessive; BBS2 (Bardet-Biedl syndrome) (BBS2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Bardet-Biedl syndrome 2, 615981, Autosomal recessive; BBS2 (Bardet-Biedl syndrome) (BBS2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Invitae Inherited Retinal Disorders Panel

Invitae
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Progressive Renal Disease Panel

Invitae
United States
310195
  • D Deletion/duplication analysis

Bardet-Biedl Syndrome, BBS2-related

Myriad Genetics, Inc.
United States
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 78

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.