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Results: 1 to 19 of 19

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

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

ATF6 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • 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

Invitae Achromatopsia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
78
  • D Deletion/duplication analysis

Achromatopsia 7, 616517, Autosomal recessive; ACHM7 (Achromatopsia) (ATF6 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

Achromatopsia (ACHM) via the ATF6 Gene

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

Invitae Inherited Retinal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Achromatopsia (ACHM) Panel

PreventionGenetics, part of Exact Sciences
United States
76
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Retinal dystrophy panel. 260 gene NGS panel.

Genologica Medica
Spain
420257
  • C Sequence analysis of the entire coding region

Achromatopsia panel. 8-gene NGS panel.

Genologica Medica
Spain
88
  • C Sequence analysis of the entire coding region

Achromatopsia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
55
  • 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

Achromatopsia panel

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

Single gene testing ATF6

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

Cone Rod Dystrophy panel

Molecular Vision Laboratory
United States
6035
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel

Molecular Vision Laboratory
United States
379287
  • C Sequence analysis of the entire coding region

Achromatopsia Panel

CeGaT GmbH
Germany
106
  • C Sequence analysis of the entire coding region

Achromatopsia

Molecular Genetics Laboratory Institute for Ophthalmic Research
Germany
76
  • C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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.