Clinical and research tests for 164731 - Genetic Testing Registry (GTR)

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NeXT Dx Personalis, Inc. United States	1	414	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
Hyperinsulinism Panel Genetic Services Laboratory University of Chicago United States	13	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
AKT2 Gene Diabetes mellitus, noninsulin-dependent NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
AKT2 Gene Hypoinsulinemic hypoglycemia with hemihypertrophy NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Comprehensive Epilepsy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	318	D Deletion/duplication analysis S Mutation scanning of the entire coding region T Targeted variant analysis
Tempus xT Tempus Labs, Inc. United States	2	647	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
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
Solid Tumor Panel Centogene AG - the Rare Disease Company Germany	218	135	C Sequence analysis of the entire coding region
AKT2 - 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
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
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
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
JAX SOMASEQ The Jackson Laboratory for Genomic Medicine United States	1	517	D Deletion/duplication analysis I Microsatellite instability testing (MSI) R RNA analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Endeavor PathGroup United States	73	505	C Sequence analysis of the entire coding region
Invitae Hypoglycemia Panel Invitae United States	173	119	D Deletion/duplication analysis C Sequence analysis of the entire coding region
OmniSeq INSIGHT OmniSeq, Inc. United States	1	525	R RNA analysis C Sequence analysis of the entire coding region

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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 106

Results: 1 to 20 of 106