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Results: 1 to 20 of 21

Tests names and labsConditionsGenes, analytes, and microbesMethods

Xeroderma pigmentosum, variant type, 278750, Autosomal recessive; XPV (Xeroderma pigmentosum variant) (POLH 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

Xeroderma pigmentosum, variant type, 278750, Autosomal recessive; XPV (Xeroderma pigmentosum variant) (POLH 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

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skin and Connective Tissue Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
12469
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Xeroderma pigmentosum Deletion / Duplication 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

Xeroderma pigmentosum NGS 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

Xeroderma pigmentosum 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

Xeroderma Pigmentosum Panel

PreventionGenetics, part of Exact Sciences
United States
119
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Xeroderma Pigmentosum via the POLH Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Xeroderma pigmentosum variant type (sequence analysis of POLH gene)

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

Dermatological. Full panel

Genologica Medica
Spain
12268
  • C Sequence analysis of the entire coding region

Xeroderma pigmentosum panel

Genologica Medica
Spain
159
  • C Sequence analysis of the entire coding region

XERODERMA PIGMENTOSUM

Laboratorio de Genetica Clinica SL
Spain
89
  • C Sequence analysis of the entire coding region

Full Comprehensive Cancer Panel

Fulgent Genetics
United States
329127
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hereditary Cancer Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
128130
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
173204
  • C Sequence analysis of the entire coding region

Xeroderma pigmentosum Panel

CeGaT GmbH
Germany
108
  • C Sequence analysis of the entire coding region

Disorders associated with malignancy Panel

CeGaT GmbH
Germany
2645
  • C Sequence analysis of the entire coding region

POLH Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 21

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.