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Results: 1 to 20 of 64 (representing 31 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7851205
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

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

Cohen syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel

PreventionGenetics
United States
299280
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Flecked Retina Disorder Sequencing Panel

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

Monogenic Obesity Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1332
  • C Sequence analysis of the entire coding region

VPS13B. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

VPS13B. Detection of the mutation c.3348_3349delCT by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

VPS13B. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

VPS13B. MLPA testing

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

Cohen Syndrome via the VPS13B (COH1) Gene

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

Cohen Syndrome, Deletions-Duplications (MLPA) COH1 (VPS13B) Gene

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

Eye diseases comprehensive panel

Asper Biotech Asper Biotech Ltd.
Estonia
351275
  • C Sequence analysis of the entire coding region

Invitae Phagocyte Defects Panel

Invitae
United States
4227
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Primary Immunodeficiency Panel

Invitae
United States
282207
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Monogenic Obesity Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
4933
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Flecked Retina Disorders Panel

Blueprint Genetics
Finland
411
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cohen Syndrome (VPS13B) Targeted Testing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • T Targeted variant analysis

Cohen Syndrome Targeted Mutation Analysis

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
11
  • T Targeted variant analysis

Family Prep Screen

Counsyl
United States
112110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 64

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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