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Results: 1 to 20 of 48 (representing 19 labs)

Tests names and labsConditionsGenes and analytesMethods

Meckel Gruber Syndrome Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1615
  • C Sequence analysis of the entire coding region

Joubert/Meckel-Gruber syndrome Panel

Genetic Services Laboratory University of Chicago
United States
3329
  • C Sequence analysis of the entire coding region

CC2D2A. Detection of the mutation c.1762C>T (p.Val587fs) by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

Joubert and Meckel-Gruber Syndromes via the CC2D2A Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ciliopathy Sequencing Panel

PreventionGenetics
United States
9293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Joubert and Meckel-Gruber Syndromes Sequencing Panel

PreventionGenetics
United States
3228
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ciliopathy Focus Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
219152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Brain malformations

Asper Biotech Asper Biotech Ltd.
Estonia
185145
  • C Sequence analysis of the entire coding region

Joubert Syndrome

Asper Biotech Asper Biotech Ltd.
Estonia
3729
  • C Sequence analysis of the entire coding region

COACH Syndrome Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
83
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Meckel-Gruber Syndrome Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
2912
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Joubert Syndrome Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
5430
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Joubert Syndrome Panel

Molecular Vision Laboratory
United States
5025
  • C Sequence analysis of the entire coding region

Meckel syndrome

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1010
  • C Sequence analysis of the entire coding region

Meckel Gruber Syndrome

GeneTech ATS GeneTech Private Limited
India
44
  • T Targeted variant analysis

Meckel syndrome type 6

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

Retinal Dystrophy Panel

Molecular Vision Laboratory
United States
372287
  • C Sequence analysis of the entire coding region

Meckel Syndrome Panel

CeGaT GmbH
Germany
1112
  • C Sequence analysis of the entire coding region

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
174204
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 48

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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