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Results: 41 to 60 of 69

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Mosaic Carrier Test    

GeneDx
United States
11040
  • T Targeted variant analysis

Two Known Familial Variants in a Nuclear Gene

GeneDx
United States
11043
  • T Targeted variant analysis

One Known Familial Variant in a Nuclear Gene

GeneDx
United States
11045
  • T Targeted variant analysis

Retinopathy and Optic Atrophy NGS Panel

Fulgent Genetics
United States
563241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CONE-ROD DYSTROPHY

Laboratorio de Genetica Clinica SL
Spain
137
  • C Sequence analysis of the entire coding region

Cone-Rod Dystrophy NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
4537
  • C Sequence analysis of the entire coding region

ACHROMATOPSIA

Laboratorio de Genetica Clinica SL
Spain
66
  • C Sequence analysis of the entire coding region

CNGA3 single gene sequencing

Molecular Vision Laboratory
United States
21
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Leber Congenital Amaurosis Panel

Blueprint Genetics
Finland
126
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Achromatopsia Panel

Blueprint Genetics
Finland
18
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel

Blueprint Genetics
Finland
1260
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cone Rod Dystrophy Panel

Blueprint Genetics
Finland
142
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Achromatopsia panel

Molecular Vision Laboratory
United States
86
  • C Sequence analysis of the entire coding region

Achromatopsia type 2

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Single gene testing CNGA3

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Cone Rod Dystrophy panel

Molecular Vision Laboratory
United States
5133
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel

Molecular Vision Laboratory
United States
372283
  • C Sequence analysis of the entire coding region

Results: 41 to 60 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.