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Results: 1 to 20 of 77

Tests names and labsConditionsGenes, analytes, and microbesMethods

CHM Gene Choroideremia NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Retinal dystrophy panel

Laboratory of Human Genetics GENOMED Health Care Center
Poland
113
  • C Sequence analysis of the entire coding region

MVL Vision Panel

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

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CHM - 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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Congenital Stationary Night Blindness Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3622
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Choroideremia, 303100, X-linked dominant; CHM (Choroideremia) (CHM 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

Choroideremia, 303100, X-linked dominant; CHM (Choroideremia) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

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

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Flecked Retina Disorders

Amplexa Genetics Amplexa Genetics A/S
Denmark
17
  • S Mutation scanning of the entire coding region

Flecked retina panel

Amplexa Genetics Amplexa Genetics A/S
Denmark
17
  • S Mutation scanning of the entire coding region

MVL Vision Panel

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

Focused Inherited Retinal Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
3631
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Flecked Retina Disorder Panel

PreventionGenetics, part of Exact Sciences
United States
1113
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 77

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.