U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 10 of 10

Tests names and labsConditionsGenes, analytes, and microbesMethods

Mandibulofacial dysostosis with alopecia, 616367, Autosomal dominant; MFDA (Mandibulofacial dysostosis with alopecia) (EDNRA gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Mandibulofacial dysostosis with alopecia, 616367, Autosomal dominant; MFDA (Mandibulofacial dysostosis with alopecia) (EDNRA gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel

Otogenetics
United States
122128
  • E Sequence analysis of select exons

Invitae Facial Dysostosis and Frontonasal Dysplasia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
4428
  • D Deletion/duplication analysis

Invitae Comprehensive Deafness Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
405219
  • D Deletion/duplication analysis

Treacher Collins syndrome and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
99
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Treacher Collins syndrome and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
99
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Treacher Collins syndrome and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
99
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Hearing Loss + mtDNA

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
218300
  • C Sequence analysis of the entire coding region

Treacher Collins Syndrome and Mandibulofacial Dysostosis Gene Panel

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
1310
  • C Sequence analysis of the entire coding region

Results: 1 to 10 of 10

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.