Clinical and research tests for 6927 - Genetic Testing Registry (GTR)

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Guardant360 TissueNext Guardant Health United States	1	87	M Methylation analysis I Microsatellite instability testing (MSI) E Sequence analysis of select exons T Targeted variant analysis
Guardant360 Response Guardant Health United States	1	74	E Sequence analysis of select exons T Targeted variant analysis
NeXT Dx Personalis, Inc. United States	1	269	I Microsatellite instability testing (MSI) R RNA analysis C Sequence analysis of the entire coding region
Maturity-onset Diabetes of the Young Panel Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine United States	14	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Guardant360 Guardant Health United States	1	85	I Microsatellite instability testing (MSI) E Sequence analysis of select exons T Targeted variant analysis
MODY Panel Genetic Services Laboratory University of Chicago United States	10	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hyperinsulinism Panel Genetic Services Laboratory University of Chicago United States	13	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HNF1A Gene Diabetes mellitus, insulin-dependent type 20 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
HNF1A Gene Maturity-onset diabetes of the young type 3 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
HNF1A Gene Renal cell carcinoma, due to HNF1A germline mutation NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
DiabetesNow Comprehensive Genetic Panel GoPath Diagnostics United States	1	15	D Deletion/duplication analysis
Tempus xT Tempus Labs, Inc. United States	2	647	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
Dyslipidemias / Early atherosclerosis Health in Code Spain	1	84	C Sequence analysis of the entire coding region
Maturity-onset diabetes of the young MODY Health in Code Spain	1	23	C Sequence analysis of the entire coding region
Cardiovascular Diseases_General Panel Health in Code Spain	1	380	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
HNF1A Department of Clinical Genetics Odense University Hospital Denmark	1	1	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GenepoweRx_Diabetes Care GenepoweRx Uppaluri K&H Personalized Medicine Clinic India	17	41	D Deletion/duplication analysis H Detection of homozygosity S Mutation scanning of the entire coding region T Targeted variant analysis
Comprehensive HemeComplete Profile + Heme Fusion + CALR PCR + FLT3 PCR PathGroup United States	16	160	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 182

Results: 1 to 20 of 182