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Results: 161 to 173 of 173

Tests names and labsConditionsGenes, analytes, and microbesMethods

Retinal Dystrophy Panel

Molecular Vision Laboratory
United States
372283
  • C Sequence analysis of the entire coding region

Joubert Syndrome Panel

CeGaT GmbH
Germany
2228
  • C Sequence analysis of the entire coding region

Meckel Syndrome Panel

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

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
173204
  • C Sequence analysis of the entire coding region

Joubert Syndrome Panel

CeGaT GmbH
Germany
2228
  • C Sequence analysis of the entire coding region

Joubert Syndrome Panel

CeGaT GmbH
Germany
2228
  • C Sequence analysis of the entire coding region

Joubert Syndrome Panel

CeGaT GmbH
Germany
2228
  • C Sequence analysis of the entire coding region

TMEM216 Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Joubert Syndrome Evaluation

Athena Diagnostics
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TMEM216 DNA Sequencing Test

Athena Diagnostics
United States
11
  • C Sequence analysis of the entire coding region

Invitae Ciliopathies Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
144102
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Joubert and Meckel-Gruber Syndromes Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
4330
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ashkenazi Jewish Diseases, 16 Genes

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
1716
  • T Targeted variant analysis

Results: 161 to 173 of 173

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.