Clinical and research tests for C0085859 - 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
Hyper-IgE Syndrome Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	32	21	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
CentoImmuno Panel Centogene US, LLC - The Rare Disease Company United States	323	329	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Diabetes and Obesity Panel Centogene US, LLC - The Rare Disease Company United States	247	262	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
AIRE - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	1	1	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
AIRE - 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
Carrier Screening Guidelines-Based Panel Ambry Genetics United States	199	165	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Diabetes and Obesity Panel Centogene AG - the Rare Disease Company Germany	247	262	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Hypoparathyroidism Panel Invitae United States	41	18	D Deletion/duplication analysis
Monogenic Diabetes Panel PreventionGenetics United States	101	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia, 240300, Autosomal recessive, Autosomal dominant; APS1 (Autoimmune polyendocrinopathy type 1) (AIRE gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia, 240300, Autosomal recessive, Autosomal dominant; APS1 (Autoimmune polyendocrinopathy type 1) (AIRE gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Congenital Diarrhea and Enteropathies Panel PreventionGenetics United States	241	157	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Carrier Screen without X-linked Disorders Invitae United States	227	279	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	246	301	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Polyglandular Autoimmune Syndrome Type 1 Myriad Genetics, Inc. United States	1	1	C Sequence analysis of the entire coding region

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