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Results: 1 to 20 of 42 (representing 17 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 NextGen Sequencing (NGS) 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

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

CC2D2A

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias NGS panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
371161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Ciliopathies Sensory Panel

Invitae
United States
6339
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Joubert and Meckel-Gruber Syndromes Panel

Invitae
United States
2518
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia: Sequencing Panel

Emory Genetics Laboratory Emory University School of Medicine
United States
365163
  • C Sequence analysis of the entire coding region

Neonatal and Adult Cholestasis: Sequencing Panel

Emory Genetics Laboratory Emory University School of Medicine
United States
9957
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 42

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