Clinical and research tests for C0079474 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	185	145	D Deletion/duplication analysis I Microsatellite instability testing (MSI) X Mutation scanning of select exons T Targeted variant analysis
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
COL7A1 - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	7	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MMP1 - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoScreen Centogene US, LLC - The Rare Disease Company United States	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoICU Panel Centogene US, LLC - The Rare Disease Company United States	829	848	C Sequence analysis of the entire coding region
CentoSkin Panel Centogene US, LLC - The Rare Disease Company United States	157	151	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoScreen Centogene AG - the Rare Disease Company Germany	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
COL7A1 - 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
MMP1 - 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
Carrier Screening Guidelines-Based Panel Ambry Genetics United States	199	165	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	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
Epidermolysis bullosa dystrophica, AR, 226600, Autosomal recessive (Severe generalized recessive dystrophic epidermolysis bullosa) (COL7A1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Epidermolysis bullosa dystrophica, AR, 226600, Autosomal recessive (Severe generalized recessive dystrophic epidermolysis bullosa) (Prenatal) (MLPA) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis
Epidermolysis bullosa dystrophica, AR, 226600, Autosomal recessive (Severe generalized recessive dystrophic epidermolysis bullosa) (MLPA) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis
Epidermolysis bullosa dystrophica, AR, 226600, Autosomal recessive (Severe generalized recessive dystrophic epidermolysis bullosa) (COL7A1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Epidermolysis bullosa dystrophica, autosomal recessive, modifier of, 226600, Autosomal recessive; RDEB (Recessive dystrophic epidermolysis bullosa inversa) (MMP1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region

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