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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

LSS - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • 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

Cataract 44, 616509, Autosomal recessive; CTRCT44 (Early-onset non-syndromic cataract) (LSS 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 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

Cataract

Amplexa Genetics Amplexa Genetics A/S
Denmark
147
  • S Mutation scanning of the entire coding region

Epilepsy - Intellectual Disability - Autism Spectrum Disorder

Amplexa Genetics Amplexa Genetics A/S
Denmark
1600
  • S Mutation scanning of the entire coding region

Invitae Ectodermal Dysplasia and Related Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
14873
  • D Deletion/duplication analysis

Epilepsy panel_v.2.0

CGC Genetics Unilabs
Portugal
1759
  • C Sequence analysis of the entire coding region

Cataract Panel 

CGC Genetics Unilabs
Portugal
1118
  • C Sequence analysis of the entire coding region

Dermatology Panel 

CGC Genetics Unilabs
Portugal
1277
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Prenatal Known Familial Mutation

GeneDx
United States
11716
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Custom XomeDxSlice (2-150 Genes, Proband Only)

GeneDx
United States
11718
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cataract Panel

GeneDx
United States
185
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypotrichosis: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1311
  • C Sequence analysis of the entire coding region

Cataract: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
3837
  • C Sequence analysis of the entire coding region

Congenital Cataracts NGS Panel

Fulgent Genetics
United States
10656
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

LSS Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cataract Panel

CeGaT GmbH
Germany
2441
  • C Sequence analysis of the entire coding region

Comprehensive Eye Disorders NGS Panel

Fulgent Genetics
United States
1018459
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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.