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Results: 1 to 20 of 43

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

Joubert/Meckel-Gruber syndrome Panel

Genetic Services Laboratory University of Chicago
United States
3433
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Acrocallosal syndrome

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

Congenital Limb Malformation Sequencing Panel with CNV Detection

PreventionGenetics
United States
6569
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MVL Vision Panel

Molecular Vision Laboratory
United States
342268
  • 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

KIF7. Complete sequencing

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

Acrocallosal, Fetal Hydrolethalus, and Joubert Syndromes via the KIF7 Gene

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

Joubert Syndrome , Panel Massive Sequencing (NGS) 13 Genes

Reference Laboratory Genetics
Spain
1313
  • C Sequence analysis of the entire coding region

Eye Disorders: Deletion/Duplication Panel

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

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

Joubert syndrome type 12 (deletion/duplication analysis of KIF7 gene)

CGC Genetics
Portugal
11
  • D Deletion/duplication analysis

Joubert syndrome type 12 (deletion/duplication analysis of KIF7 gene)

CGC Genetics
Portugal
11
  • D Deletion/duplication analysis

Joubert Syndrome Type 12, Sequencing KIF7 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

Joubert Syndrome

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
522
  • 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

Results: 1 to 20 of 43

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