Filters

See more specimen types...

Other countries

Results: 1 to 20 of 20

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

Meckel syndrome, type 8

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

Meckel-Gruber Syndrome / Joubert Syndrome via the TCTN2 Gene

PreventionGenetics
United States
11
  • 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

Joubert syndrome

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1816
  • 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 Syndrome Panel

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

TCTN2

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
21
  • 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

Ciliopathies: Sequencing and Deletion/Duplication Panel

Emory Genetics Laboratory Emory University
United States
165112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Joubert Syndrome: Sequencing Panel

Emory Genetics Laboratory Emory University
United States
3618
  • C Sequence analysis of the entire coding region

Eye Disorders: Comprehensive Sequencing and Deletion/Duplication Panel

Emory Genetics Laboratory Emory University
United States
321207
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Meckel syndrome 8 (sequence analysis of TCTN2 gene)

CGC Genetics
Portugal
21
  • C Sequence analysis of the entire coding region

Joubert and Meckel NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
3619
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ciliopathies NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
15895
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Joubert Syndrome NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
3518
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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.