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Results: 1 to 20 of 33

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

Meckel syndrome type 3

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

KidneySeq: A Comprehensive Inherited Kidney Disease Panel

Iowa Institute of Human Genetics University of Iowa
United States
122147
  • C Sequence analysis of the entire coding region

TMEM67. Complete sequencing

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

MitoMet®Plus aCGH Analysis

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

Joubert Syndrome, Meckel-Gruber Syndrome, and Nephronophthisis via the TMEM67 Gene

PreventionGenetics
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ciliopathy NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
9192
  • 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

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 3

Bioarray
Spain
11
  • 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

TMEM67

Division Human Genetics Medical University Innsbruck
Austria
51
  • S Mutation scanning of the entire coding region

TMEM67

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias NGS panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
370161
  • 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
United States
364163
  • C Sequence analysis of the entire coding region

Neurology: Sequencing Panel

Emory Genetics Laboratory Emory University
United States
256164
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 33

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