Clinical and research tests for 5429 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
POLH Gene Xeroderma pigmentosum, variant type NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Tempus xT Tempus Labs, Inc. United States	2	646	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
Endeavor PathGroup United States	73	505	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) (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 Labcorp Genetics (formerly Invitae) LabCorp 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	124	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
Oncological diseases panel _v.2.0 CGC Genetics Unilabs Portugal	1	205	C Sequence analysis of the entire coding region
Dermatology Panel CGC Genetics Unilabs Portugal	1	277	C Sequence analysis of the entire coding region
Xeroderma pigmentosum disease (NGS panel of 8 genes) CGC Genetics Unilabs Portugal	1	8	C Sequence analysis of the entire coding region
Xeroderma pigmentosum variant type (deletion/duplication analysis of POLH gene) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication analysis
Xeroderma pigmentosum variant type (sequence analysis of POLH gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Targeted Variant Analysis Integrated Genetics Westborough LabCorp United States	330	746	T Targeted variant analysis
Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	746	T Targeted variant analysis
GeneSeq PLUS Integrated Genetics Westborough LabCorp United States	287	578	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.