Clinical and research tests for 5317 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PKP1 Gene Ectodermal dysplasia/skin fragility syndrome NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
PKP1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoSkin Panel Centogene AG - the Rare Disease Company Germany	157	151	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel Labcorp Genetics (formerly Invitae) LabCorp United States	95	45	D Deletion/duplication analysis
Epidermolysis bullosa Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	13	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Epidermolysis bullosa NGS panel HNL Genomics Connective Tissue Gene Tests United States	13	23	C Sequence analysis of the entire coding region T Targeted variant analysis
Epidermolysis bullosa Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	13	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ectodermal dysplasia/skin fragility syndrome, 604536 (Epidermolysis bullosa simplex due to plakophilin deficiency) (PKP1 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
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
Epidermolysis bullosa Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	13	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epidermolysis bullosa NGS panel HNL Genomics Connective Tissue Gene Tests United States	13	23	C Sequence analysis of the entire coding region T Targeted variant analysis
Epidermolysis bullosa Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	13	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Ectodermal Dysplasia and Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	148	73	D Deletion/duplication analysis
Ectodermal Dysplasia/Skin Fragility Syndrome via the PKP1 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
Epidermolysis Bullosa and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	31	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectodermal dysplasia (WES based NGS panel of 42 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	42	C Sequence analysis of the entire coding region
Epidermolysis bullosa (WES based NGS panel of 23 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal	1	23	C Sequence analysis of the entire coding region
Dermatology Panel CGC Genetics Unilabs Portugal	1	277	C Sequence analysis of the entire coding region
Epidermolysis bullosa simplex due to plakophilin deficiency (sequence analysis of PKP1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Ichthyosis and Ectodermal Dysplasia Panel Mendelics Brazil	2	58	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.