Clinical and research tests for C0030567 - Genetic Testing Registry (GTR) - NCBI

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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
Parkinson Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	94	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PGmax™ - Comprehensive Movement Disorders Panel PreventionGenetics, part of Exact Sciences United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dystonia Exome Genetic Services Laboratory University of Chicago United States	96	170	C Sequence analysis of the entire coding region
Parkinson Disease Panel GeneDx United States	1	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Parkinson's and movement disorders panel_v.2.0 CGC Genetics Unilabs Portugal	1	256	C Sequence analysis of the entire coding region
Dementia and Parkinson's Panel Mendelics Brazil	2	60	C Sequence analysis of the entire coding region
Mitochondrial genome sequencing Molecular Vision Laboratory United States	526	339	C Sequence analysis of the entire coding region
Xpanded Adult Movement Disorders Panel GeneDx United States	5	473	C Sequence analysis of the entire coding region
Arthrogryposis Panel GeneDx United States	156	91	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dystonia and Parkinsonism Panel GeneDx United States	20	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Ashkenazi Jewish Male Carrier Screening Panel Fulgent Genetics United States	145	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Frontotemporal Dementia With Parkinsonism-17 (MAPT Single Gene Test) Fulgent Genetics United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	356	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Progressive Supranuclear Palsy (MAPT Single Gene Test) Fulgent Genetics United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Arthrogryposis NGS Panel Fulgent Genetics United States	175	60	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TBP (Spinocerebellar Ataxia Type 17) Repeat Expansion Fulgent Genetics United States	2	1	T Targeted variant analysis
Ataxia Repeat Expansion Analysis Fulgent Genetics United States	19	15	T Targeted variant analysis
Beacon Ashkenazi Jewish Female Carrier Screening Panel Fulgent Genetics United States	148	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States	718	337	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.