Filters

See more specimen types...

Other countries

Results: 1 to 20 of 48

Tests names and labsConditionsGenes and analytesMethods

Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
3433
  • D Deletion/duplication analysis

Meckel Gruber Syndrome Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
1615
  • D Deletion/duplication analysis

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
3433
  • C Sequence analysis of the entire coding region

Joubert syndrome and related disorders Comprehensive panel

Connective Tissue Gene Tests
United States
3931
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Joubert syndrome and related disorders NGS panel

Connective Tissue Gene Tests
United States
3931
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Joubert syndrome and related disorders Deletion / Duplication panel

Connective Tissue Gene Tests
United States
3931
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection

PreventionGenetics
United States
300280
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

RPGRIP1L. Complete sequencing

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

Joubert and Meckel-Gruber Syndromes via the RPGRIP1L 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

Eye Disorders: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
321207
  • D Deletion/duplication analysis

Meckel Syndrome , Panel Massive Sequencing (NGS) 10 Genes

Reference Laboratory Genetics
Spain
1010
  • C Sequence analysis of the entire coding region

Ciliopathies: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
14196
  • D Deletion/duplication analysis

Brain Malformations: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
9250
  • C Sequence analysis of the entire coding region

MECKEL SYNDROME (MECKEL-GRUBER)

Laboratorio de Genetica Clinica SL
Spain
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Meckel Syndrome Type 5, Sequencing RPGRIP1L Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Eye diseases comprehensive panel

Asper Biogene Asper Biogene LLC
Estonia
351275
  • C Sequence analysis of the entire coding region

Brain malformations

Asper Biogene Asper Biogene LLC
Estonia
185145
  • 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.

Support Center