Filters

See more specimen types...

Other countries

Results: 1 to 20 of 28

Tests names and labsConditionsGenes and analytesMethods

ERCC2. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Xeroderma Pigmentosum Sequencing Panel

PreventionGenetics
United States
108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Xeroderma Pigmentosum via the ERCC3 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Trichothiodystrophy , Panel Massive Sequencing (NGS) 5 Genes

Reference Laboratory Genetics
Spain
55
  • 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

ERCC2

Institute for Human Genetics University Clinic Freiburg
Germany
31
  • C Sequence analysis of the entire coding region

Comprehensive Cancer Panel

Fulgent Genetics
United States
1724124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Trichothiodystrophy

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
56
  • C Sequence analysis of the entire coding region

Trichothiodystrophy: ERCC2 and ERCC3 genes sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
22
  • C Sequence analysis of the entire coding region

Progeria syndromes Panel

CeGaT GmbH
Germany
2018
  • C Sequence analysis of the entire coding region

Trichothiodystrophy (NGS panel of 5 genes)

CGC Genetics
Portugal
25
  • C Sequence analysis of the entire coding region

Trichothiodystrophy

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Single gene testing ERCC2

CeGaT GmbH
Germany
31
  • C Sequence analysis of the entire coding region

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

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

Trichothiodystrophy (sequence analysis of ERCC3 gene)

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

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
174204
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel

CeGaT GmbH
Germany
147143
  • C Sequence analysis of the entire coding region

Ichthyoses and related disorders of cornification Panel

CeGaT GmbH
Germany
4265
  • C Sequence analysis of the entire coding region

Trichothiodystrophy (sequence analysis of ERCC2 gene)

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

GTF2H5

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 28

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.

Support Center