Clinical and research tests for C2931845 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NBIA Panel Genetic Services Laboratory University of Chicago United States	9	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA) BloodGenetics Spain	39	33	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
Neuromuscular Disorders Panel CGC Genetics Unilabs Portugal	17	367	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	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 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
Single gene testing REPS1 CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	1	14	D Deletion/duplication analysis
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	1	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pantothenate Kinase Associated Neurodegeneration (PKAN), PANK2, Sequencing NBIA Testing Center Oregon Health & Science University United States	2	1	C Sequence analysis of the entire coding region
Infantile Neuroaxonal Dystrophy (INAD), PLA2G6, Sequencing NBIA Testing Center Oregon Health & Science University United States	5	1	C Sequence analysis of the entire coding region
Dystonia Asper Biogene Asper Biogene LLC Estonia	39	40	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FTL - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	2	1	E Sequence analysis of select exons T Targeted variant analysis
FA2H - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	3	1	E Sequence analysis of select exons T Targeted variant analysis
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing NBIA Testing Center Oregon Health & Science University United States	5	19	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.