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Results: 21 to 40 of 49

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

Molecular Vision Laboratory
United States
342268
  • C Sequence analysis of the entire coding region

qGenEx Sex development disorders

Quantitative Genomic Medicine Laboratories, SL
Spain
4548
  • C Sequence analysis of the entire coding region

Short Rib Skeletal Dysplasia Panel

PreventionGenetics
United States
2419
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ciliopathy Panel

PreventionGenetics
United States
135133
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Joubert and Meckel-Gruber Syndromes Panel

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

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

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

Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel. 16-gene NGS panel.

Genologica Medica
Spain
2416
  • C Sequence analysis of the entire coding region

Joubert Syndrome (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
1725
  • 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

TCTN3 Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal Ciliopathies

Asper Biogene Asper Biogene LLC
Estonia
2823
  • C Sequence analysis of the entire coding region

Brain malformations

Asper Biogene Asper Biogene LLC
Estonia
318252
  • C Sequence analysis of the entire coding region

Joubert Syndrome

Asper Biogene Asper Biogene LLC
Estonia
3729
  • C Sequence analysis of the entire coding region

Joubert Syndrome Panel

Molecular Vision Laboratory
United States
4824
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 49

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.