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Results: 1 to 20 of 33 (representing 17 labs)

Tests names and labsConditionsGenes and analytesMethods

Cancer Hotspot Panel

Centogene AG - the Rare Disease Company
Germany
4688
  • E Sequence analysis of select exons

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel

PreventionGenetics
United States
300280
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Leber Congenital Amaurosis Sequencing Panel

PreventionGenetics
United States
2728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GNAT2. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
845637
  • D Deletion/duplication analysis

Achromatopsia (ACHM) via the GNAT2 Gene

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

Achromatopsia (ACHM) Sequencing Panel

PreventionGenetics
United States
55
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Achromatopsia - GNAT2 Sequencing

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
11
  • C Sequence analysis of the entire coding region

Eye diseases comprehensive panel

Asper Biogene Asper Biogene LLC
Estonia
351275
  • C Sequence analysis of the entire coding region

Achromatopsia

Asper Biogene Asper Biogene LLC
Estonia
66
  • C Sequence analysis of the entire coding region

GNAT2 single gene sequencing

Molecular Vision Laboratory
United States
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Achromatopsia Panel

Blueprint Genetics
Finland
16
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel

Blueprint Genetics
Finland
1181
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cone Rod Dystrophy Panel

Blueprint Genetics
Finland
132
  • 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

GNAT2

Institute for Human Genetics University Clinic Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Achromatopsia

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
55
  • C Sequence analysis of the entire coding region

Achromatopsia type 4

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

Single gene testing GNAT2

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

Results: 1 to 20 of 33

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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