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Results: 1 to 20 of 44

Tests names and labsConditionsGenes and analytesMethods

DonorReady Customized Carrier Screen (Select from 204 Genes)

EVOLVEGENE EvolveGene
United States
326204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FamilyReady Carrier Screen (204 Genes)

EVOLVEGENE EvolveGene
United States
327204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MVL Vision Panel

Molecular Vision Laboratory
United States
342268
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

CNGB3 mutation analysis

Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
Netherlands
21
  • C Sequence analysis of the entire coding region

CNGA3. Complete sequencing

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

PDE6C. Complete sequencing

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

GNAT2. Complete sequencing

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

CNGB3. Complete sequencing

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

CNGB3. Detection of the mutation c.1148delC by sequencing

Instituto de Medicina Genomica
Spain
41
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

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

Achromatopsia via the CNGB3 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
76
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Achromatopsia Type - CNGB3 Sequencing

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
21
  • C Sequence analysis of the entire coding region

Achromatopsia , Panel Massive Sequencing (NGS) 5 Genes

Reference Laboratory Genetics
Spain
55
  • C Sequence analysis of the entire coding region

Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes

Reference Laboratory Genetics
Spain
2930
  • C Sequence analysis of the entire coding region

Eye Disorders: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
321207
  • D Deletion/duplication analysis

Cone-Rod Dystrophy Panel

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

Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
6836
  • D Deletion/duplication analysis

ACHROMATOPSIA

Laboratorio de Genetica Clinica SL
Spain
55
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 44

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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