Clinical and research tests for 171833 - Genetic Testing Registry (GTR)

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Short syndrome testing (PIK3R1) Genetic Services Laboratory University of Chicago United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NeXT Dx Personalis, Inc. United States	1	413	I Microsatellite instability testing (MSI) R RNA analysis C Sequence analysis of the entire coding region
Autoinflammatory Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	182	117	C Sequence analysis of the entire coding region
Early Onset IBD Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	163	110	C Sequence analysis of the entire coding region
Bcell/Antibody Deficiency GenePanel Mayo Clinic Laboratories Mayo Clinic United States	79	61	C Sequence analysis of the entire coding region
ALPS Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	34	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PIK3R1 Gene Immunodeficiency type 36 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
PIK3R1 Gene Agammaglobulinemia type 7, autosomal recessive NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
PIK3R1 Gene SHORT syndrome NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Lipodystrophy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	23	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Tempus xT Tempus AI United States	2	646	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
FoundationOne® Heme Foundation Medicine, Inc. United States	2	405	D Deletion/duplication analysis R RNA analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Comprehensive HemeComplete Profile + Heme Fusion + CALR PCR + FLT3 PCR PathGroup United States	16	160	T Targeted variant analysis
Solid Tumor Panel Centogene AG - the Rare Disease Company Germany	218	135	C Sequence analysis of the entire coding region
PIK3R1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuro-Onc Expanded Panel Mayo Clinic Laboratories Mayo Clinic United States	1	118	E Sequence analysis of select exons
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	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
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.

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Results: 1 to 20 of 147

Results: 1 to 20 of 147