Clinical and research tests for C3809719 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
DSG1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	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 Invitae United States	95	45	D Deletion/duplication analysis
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508, Autosomal recessive; EPKHE (Severe dermatitis-multiple allergies-metabolic wasting syndrome) (DSG1 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 Autoinflammatory and Autoimmunity Syndromes Panel Invitae United States	223	154	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Invitae Hyper IgE Syndrome Panel Invitae United States	16	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital erythroderma, with palmoplantar keratoderma, hypotrichosis, and hyper IgE (sequence analysis of DSG1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Palmoplantar keratoderma panel. 25-gene NGS panel. Genologica Medica Spain	62	25	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
Palmoplantar Keratoderma Asper Biogene Asper Biogene LLC Estonia	18	11	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
DSG1 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Platelets, Coagulation disorders Panel CeGaT GmbH Germany	17	17	C Sequence analysis of the entire coding region
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel CeGaT GmbH Germany	29	55	C Sequence analysis of the entire coding region
Ichthyoses and related disorders of cornification Panel CeGaT GmbH Germany	42	65	C Sequence analysis of the entire coding region
DSG1 Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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