Clinical and research tests for C1848410 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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	1	1	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	1	1	C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	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	125	69	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	9	9	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	9	9	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	9	9	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	11	9	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	1	1	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	1	1	C Sequence analysis of the entire coding region
Dermatological. Full panel Genologica Medica Spain	123	68	C Sequence analysis of the entire coding region
Xeroderma pigmentosum panel Genologica Medica Spain	15	9	C Sequence analysis of the entire coding region
Xeroderma Pigmentosum , Panel Massive Sequencing (NGS) 9 Genes Reference Laboratory Genetics Spain	9	9	C Sequence analysis of the entire coding region
XERODERMA PIGMENTOSUM Laboratorio de Genetica Clinica SL Spain	8	9	C Sequence analysis of the entire coding region
Full Comprehensive Cancer Panel Fulgent Genetics United States	329	127	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	128	130	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia and differential diagnoses Panel CeGaT GmbH Germany	173	204	C Sequence analysis of the entire coding region
Xeroderma pigmentosum Panel CeGaT GmbH Germany	10	8	C Sequence analysis of the entire coding region
Disorders associated with malignancy Panel CeGaT GmbH Germany	26	45	C Sequence analysis of the entire coding region
POLH Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.