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Results: 21 to 40 of 52

Tests names and labsConditionsGenes, analytes, and microbesMethods

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
527338
  • C Sequence analysis of the entire coding region

Joubert syndrome and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3737
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Joubert syndrome and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3737
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Joubert syndrome and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3737
  • 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

Joubert and Meckel-Gruber Syndromes Panel

PreventionGenetics, part of Exact Sciences
United States
4338
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

INPP5E

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Hereditary ataxias. NGS panel of 139 genes.

Genologica Medica
Spain
220139
  • C Sequence analysis of the entire coding region

Ataxia panel. NGS panel of 157 genes.

Genologica Medica
Spain
247156
  • C Sequence analysis of the entire coding region

Retinitis pigmentosa panel

Genologica Medica
Spain
164108
  • C Sequence analysis of the entire coding region

Retinal dystrophy panel. 260 gene NGS panel.

Genologica Medica
Spain
420257
  • C Sequence analysis of the entire coding region

Ciliopathy panel. NGS panel of 99 genes.

Genologica Medica
Spain
15297
  • C Sequence analysis of the entire coding region

Joubert syndrome panel. 36-gene NGS panel.

Genologica Medica
Spain
6133
  • C Sequence analysis of the entire coding region

Congenital liver fibrosis panel. NGS panel of 52 genes.

Genologica Medica
Spain
8950
  • C Sequence analysis of the entire coding region

Ciliopathies

Asper Biogene Asper Biogene LLC
Estonia
166120
  • C Sequence analysis of the entire coding region

Joubert syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
3834
  • C Sequence analysis of the entire coding region

Joubert Syndrome , Panel Massive Sequencing (NGS) 13 Genes

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

Bardet-Biedl Syndrome NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
2426
  • C Sequence analysis of the entire coding region

JOUBERT SYNDROME (JBTS)

Laboratorio de Genetica Clinica SL
Spain
1113
  • C Sequence analysis of the entire coding region

Joubert Syndrome Type 1, Sequencing INPP5E Gene

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

Results: 21 to 40 of 52

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.