Clinical and research tests for SMARCE1 - Genetic Testing Registry (GTR)

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Coffin-Siris syndrome Panel Genetic Services Laboratory University of Chicago United States	7	15	D Deletion/duplication 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
SMARCE1 Gene Coffin-Siris syndrome, SMARCE1 related NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
SMARCE1 Gene Meningioma, familial, susceptibility to NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Hereditary Expanded Cancer Panel Mayo Clinic Laboratories Mayo Clinic United States	1	86	C Sequence analysis of the entire coding region
Tempus xT Tempus AI - CHI United States	2	647	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
FAMILIAL MULTIPLE MENINGIOMA Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol Spain	1	6	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Comprehensive cancer panel (76 genes) Molecular Genetics Laboratory North York General Hospital Canada	1	74	T Targeted variant analysis
CNS tumour panel (20 genes) Molecular Genetics Laboratory North York General Hospital Canada	19	20	C Sequence analysis of the entire coding region
OncoAlly™ Comprehensive Hereditary Cancer Analysis Variantyx, Inc. United States	1	88	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
CentoCancer Comprehensive Centogene AG - the Rare Disease Company Germany	155	107	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SMARCE1 - 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
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
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Multi-Cancer + RNA Panel Labcorp Genetics (formerly Invitae) LabCorp United States	142	63	D Deletion/duplication analysis
Invitae Neurodevelopmental Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	404	241	D Deletion/duplication analysis
Penn Cancer Grant Panel Ambry Genetics United States	79	80	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Limb and Digital Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States	356	177	D Deletion/duplication 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 89

Results: 1 to 20 of 89