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Results: 1 to 8 of 8

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Inborn Errors of Immunity and Cytopenias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
754562
  • D Deletion/duplication analysis

Trichothiodystrophy 6, nonphotosensitive, 616943, Autosomal recessive; TTD6 (Trichothiodystrophy) (GTF2E2 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

Trichothiodystrophy Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Trichothiodystrophy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Trichothiodystrophy NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
66
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Primary Immunodeficiency Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
603446
  • D Deletion/duplication analysis

Invitae Ectodermal Dysplasia and Related Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
14873
  • D Deletion/duplication analysis

Trichothiodystrophy: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
66
  • C Sequence analysis of the entire coding region

Results: 1 to 8 of 8

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.