Clinical and research tests for C1836284 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
KRT5 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	7	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel Invitae United States	95	45	D Deletion/duplication analysis
Epidermylysis bullosa simplex-MCR, 609352 (Epidermolysis bullosa simplex with circinate migratory erythema) (KRT5 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
Epidermylysis bullosa simplex-MCR, 609352 (Epidermolysis bullosa simplex with circinate migratory erythema) (KRT5 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
Epidermylysis bullosa simplex-MCR, 609352 (Epidermolysis bullosa simplex with circinate migratory erythema) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epidermylysis bullosa simplex-MCR, 609352 (Epidermolysis bullosa simplex with circinate migratory erythema) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
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
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Epidermolysis Bullosa Simplex (EBS) via the KRT5 Gene PreventionGenetics, part of Exact Sciences United States	6	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
KRT5 MLPA Institute for Human Genetics University Medical Center Freiburg Germany	7	1	D Deletion/duplication analysis
Dermatological. Full panel Genologica Medica Spain	123	68	C Sequence analysis of the entire coding region
Epidermolysis bullosa panel. NGS panel of 24 genes. Genologica Medica Spain	55	24	C Sequence analysis of the entire coding region
Epidermolysis Bullosa Asper Biogene Asper Biogene LLC Estonia	48	25	C Sequence analysis of the entire coding region
KRT5 Institute for Human Genetics University Medical Center Freiburg Germany	7	1	C Sequence analysis of the entire coding region
Dowling-Degos Disease (KRT5 Single Gene Test) Fulgent Genetics United States	7	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epidermolysis Bullosa , Panel Massive Sequencing (NGS) 8 Genes Reference Laboratory Genetics Spain	16	8	C Sequence analysis of the entire coding region
EPIDERMOLISIS BULLOSA: EXOME PANEL Laboratorio de Genetica Clinica SL Spain	26	22	C Sequence analysis of the entire coding region
Single gene testing KRT5 CeGaT GmbH Germany	7	1	C Sequence analysis of the entire coding region
Genetic Epidermolyses and blistering disorders Panel CeGaT GmbH Germany	23	19	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.