U.S. flag

An official website of the United States government

Filters

Test type

Test purpose

Test method

Test service

Laboratory certification

Specimen type

See more specimen types...

Laboratory location

See more states

Other countries

See more countries

Results: 1 to 20 of 109

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

CYP1B1 Gene Glaucoma, primary type 3A NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

CYP1B1 gene mutation analysis

Genetics and Molecular Pathology SA Pathology
Australia
31
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Tempus xT

Tempus Labs, Inc.
United States
2647
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

MVL Vision Panel

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

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CYP1B1 - NGS including CNV analysis

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

CentoVision Panel

Centogene AG - the Rare Disease Company
Germany
417413
  • 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 Glaucoma Panel

Invitae
United States
5727
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Anterior segment dysgenesis 6, multiple subtypes, 617315; ASGD6 (Familial ocular anterior segment mesenchymal dysgenesis) (CYP1B1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Anterior segment dysgenesis 6, multiple subtypes, 617315; ASGD6 (Familial ocular anterior segment mesenchymal dysgenesis) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300, Autosomal recessive; GLC3A (Congenital glaucoma) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300, Autosomal recessive; GLC3A (Congenital glaucoma) (CYP1B1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

WES metabolic disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1625
  • E Sequence analysis of select exons

Anterior Segment Dysgenesis Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
272278
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Glaucoma panel

Amplexa Genetics Amplexa Genetics A/S
Denmark
118
  • S Mutation scanning of the entire coding region

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1136
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 109

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.