Clinical and research tests for C0034345 - Genetic Testing Registry (GTR)

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Expanded Carrier Screening Genome-Nilou Lab Iran	110	146	C Sequence analysis of the entire coding region
Ataxia Exome Genetic Services Laboratory University of Chicago United States	289	481	C Sequence analysis of the entire coding region
Dystonia Exome Genetic Services Laboratory University of Chicago United States	93	170	C Sequence analysis of the entire coding region
PDHA1 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	2	1	T Targeted variant analysis
PDHA1 Sequence Analysis Baylor Genetics United States	2	1	C Sequence analysis of the entire coding region T Targeted variant analysis
PDHA1 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PDHA1 Deletion/Duplication Analysis Baylor Genetics United States	2	1	D Deletion/duplication analysis
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
Amino Acid Analysis - Plasma Baylor Genetics United States	25	26	A Analyte
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	330	746	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
Inheritest 100 PLUS panel Integrated Genetics Westborough LabCorp United States	115	142	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
Combined Mito Genome Plus Mito Focused Nuclear Gene Panel GeneDx United States	75	240	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 40

Results: 1 to 20 of 40