Clinical and research tests for C0016952 - Genetic Testing Registry (GTR)

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
UDP-galactose 4' epimerase, RBC Mayo Clinic Laboratories Mayo Clinic United States	1	1	A Analyte
NewbornGeneID GeneID Lab - Advanced Molecular Diagnostics United States	73	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Galactitol, QN, U Mayo Clinic Laboratories Mayo Clinic United States	1	1	A Analyte
Galactosemia Mutation Panel Mayo Clinic Laboratories Mayo Clinic United States	2	1	T Targeted variant analysis
Expanded Carrier Screening Genome-Nilou Lab Iran	110	146	C Sequence analysis of the entire coding region
GALT gene sequencing Inherited Metabolic Disease group University of Cape Town and National Health Laboratory Services South Africa	2	1	C Sequence analysis of the entire coding region
GALT S135L Inherited Metabolic Disease group University of Cape Town and National Health Laboratory Services South Africa	2	1	T Targeted variant analysis
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	327	300	C Sequence analysis of the entire coding region
Galactosemia, Full Gene Analysis Mayo Clinic Laboratories Mayo Clinic United States	1	1	C Sequence analysis of the entire coding region
GALT Gene Sequencing & Del/Dup GeneDx United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Targeted Variant Analysis Integrated Genetics Westborough LabCorp United States	330	746	T Targeted variant analysis
Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	746	T Targeted variant analysis
GeneSeq PLUS Integrated Genetics Westborough LabCorp United States	287	578	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GeneSeq PLUS, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	597	C Sequence analysis of the entire coding region
Partner Reflex to GeneSeq Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region
Inheritest 300 PLUS Panel Integrated Genetics Westborough LabCorp United States	172	350	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Inheritest 500 PLUS Panel Integrated Genetics Westborough LabCorp United States	287	578	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
GeneSeq PLUS, GALT Integrated Genetics Westborough LabCorp United States	1	1	C Sequence analysis of the entire coding region
Inheritest High Frequency panel Integrated Genetics Westborough LabCorp United States	109	110	D Deletion/duplication analysis X Mutation scanning of select exons 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 52

Results: 1 to 20 of 52