Clinical and research tests for CFTR OR FCGR2A OR TGFB1 - Genetic Testing Registry (GTR)

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Tempus xT Tempus Labs, Inc. United States	2	647	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	754	562	D Deletion/duplication analysis
Congenital Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States	241	157	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Immune Disorders Panel CGC Genetics Unilabs Portugal	1	385	C Sequence analysis of the entire coding region
NewbornDx Advanced Sequencing Evaluation Athena Diagnostics United States	1	1722	C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SmartMeds+ Pharmacogenomic Testing By Innovative GX Health Innovative Genomics InnovativeGx Health United States	1	67	T Targeted variant analysis
Precision HealthPGx Panel (25 Genes) RPRD Diagnostics, LLC United States	97	23	D Deletion/duplication analysis T Targeted variant analysis
Whole Pharmacogenomics Scan RPRD Diagnostics, LLC United States	107	69	D Deletion/duplication analysis T Targeted variant analysis
Cystic Fibrosis Center for Genetics at Saint Francis Saint Francis Hospital United States	1	1	T Targeted variant analysis
Cystic Fibrosis Common Mutation Panel Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital United States	1	1	T Targeted variant analysis
Early Onset IBD Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	163	110	C Sequence analysis of the entire coding region
Pancreatitis SNaP-Shot Ariel Precision Medicine United States	11	16	T Targeted variant analysis
Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	185	145	D Deletion/duplication analysis I Microsatellite instability testing (MSI) X Mutation scanning of select exons T Targeted variant analysis
Dysregulation/Autoimmune Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	39	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TGM6 Gene Spinocerebellar ataxia type 35, autosomal dominant NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
CFTR Gene Cystic fibrosis NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
AZF region Gene Azoospermia induced by Y chromosome microdeletions NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
CFTR Gene Congenital bilateral absence of vas deferens NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning 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 451

Results: 1 to 20 of 451