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Results: 61 to 78 of 78

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

TMEM67

Institute of Human Genetics Medical University Innsbruck
Austria
51
  • S Mutation scanning of the entire coding region

TMEM67 Single Gene

Fulgent Genetics
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias NGS Panel

Fulgent Genetics
United States
543178
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TMEM67 DNA Sequencing Test

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

Joubert Syndrome Evaluation

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

Invitae Ciliopathies Panel

Invitae
United States
144102
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Joubert and Meckel-Gruber Syndromes Panel

Invitae
United States
4330
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Hepatic Fibrosis NGS Panel

Fulgent Genetics
United States
4734
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nephronophthisis NGS Panel

Fulgent Genetics
United States
2812
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Joubert and Meckel NGS Panel

Fulgent Genetics
United States
11023
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Eye Disorders NGS Panel

Fulgent Genetics
United States
1018459
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ciliopathies NGS Panel

Fulgent Genetics
United States
14197
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Joubert Syndrome NGS Panel

Fulgent Genetics
United States
3417
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TMEM67-Related Joubert Syndrome

Bioscientia GmbH Center for Human Genetics
Germany
11
  • C Sequence analysis of the entire coding region

Results: 61 to 78 of 78

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.