Clinical and research tests for 606062 - Genetic Testing Registry (GTR)

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MAMLD1 Gene Hypospadias type 2, X-linked NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning 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
Tempus xT Tempus AI - RTP United States	2	647	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
SMC3 Gene Cornelia de Lange syndrome type 3 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning 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
Myeloid Next Generation Sequencing with Reflex Pathology Interp Sentara Healthcare Laboratory Services United States	3	69	T Targeted variant analysis
Multigene Myeloid Panel UCSF Molecular Diagnostics Laboratory University of California, San Francisco United States	1	52	X Mutation scanning of select exons
Comprehensive HemeComplete Profile + Heme Fusion + CALR PCR + FLT3 PCR PathGroup United States	16	160	T Targeted variant analysis
UCSF Molecular Diagnostics Laboratory UCSF Molecular Diagnostics Laboratory University of California, San Francisco United States	4	52	C Sequence analysis of the entire coding region
Myeloid Tumor Panel Centogene AG - the Rare Disease Company Germany	74	34	C Sequence analysis of the entire coding region
SMC3 - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoCardio Panel Centogene AG - the Rare Disease Company Germany	289	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MayoComplete Solid Tumor Panel Mayo Clinic Laboratories Mayo Clinic United States	1	476	I Microsatellite instability testing (MSI) R RNA analysis C Sequence analysis of the entire coding region
Invitae Neurodevelopmental Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	404	241	D Deletion/duplication analysis
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
Myeloid NextGen Sequencing Assay with Calreticulin Exon 9 Mutation PathGroup United States	16	65	T Targeted variant analysis
Myeloid NextGen Sequencing Assay PathGroup United States	16	65	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 136

Results: 1 to 20 of 136