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Results: 1 to 17 of 17

Tests names and labsConditionsGenes, analytes, and microbesMethods

GTF2H5 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoSkin Panel

Centogene AG - the Rare Disease Company
Germany
157151
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Trichothiodystrophy 3, photosensitive, 616395; TTD3 (Trichothiodystrophy) (GTF2H5 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

Invitae
United States
552424
  • D Deletion/duplication analysis

Invitae Ectodermal Dysplasia and Related Disorders Panel

Invitae
United States
14873
  • D Deletion/duplication analysis

Trichothiodystrophy, complementation group A (sequence analysis of GTF2H5 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Ichthyosis

Asper Biogene Asper Biogene LLC
Estonia
6747
  • C Sequence analysis of the entire coding region

GTF2H5

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Trichothiodystrophy: Full gene sequencing panel

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

Trichothiodystrophy , Panel Massive Sequencing (NGS) 5 Genes

Reference Laboratory Genetics
Spain
55
  • C Sequence analysis of the entire coding region

Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes

Reference Laboratory Genetics
Spain
3533
  • C Sequence analysis of the entire coding region

TRICHOTHIODYSTROPHY TYPE F (PIBIDS SYNDROME)

Laboratorio de Genetica Clinica SL
Spain
33
  • C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

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.