Clinical and research tests for C1868595 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SNCA - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hereditary Parkinson Disease and Parkinsonism Panel Labcorp Genetics (formerly Invitae) LabCorp United States	44	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia and Alzheimer Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	72	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Parkinson disease 1, 168601, Autosomal dominant; PARK1 (Parkinsonian-pyramidal syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Parkinson disease 1, 168601, Autosomal dominant; PARK1 (Parkinsonian-pyramidal syndrome) (SNCA gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Parkinson Disease and Parkinsonism Panel PreventionGenetics, part of Exact Sciences United States	68	70	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Parkinson's Disease via the SNCA Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Parkinson Disease Panel PreventionGenetics, part of Exact Sciences United States	27	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
SNCA MLPA Institute for Human Genetics University Medical Center Freiburg Germany	3	1	D Deletion/duplication analysis
Parkinson's disease panel. NGS panel of 22 genes. Genologica Medica Spain	45	22	C Sequence analysis of the entire coding region
Alzheimer's panel Genologica Medica Spain	25	10	C Sequence analysis of the entire coding region
Dementia panel. NGS panel of 21 genes. Genologica Medica Spain	44	21	C Sequence analysis of the entire coding region
Alzheimer's panel. NGS panel of 10 genes. Genologica Medica Spain	25	10	C Sequence analysis of the entire coding region
Parkinson Type 1, SNCA Duzen Laboratories Duzen BBAGUAS Turkey	2	1	C Sequence analysis of the entire coding region
Parkinson deletion/duplication analysis Duzen Laboratories Duzen BBAGUAS Turkey	8	8	D Deletion/duplication analysis
Dystonia and Parkinsonism Panel GeneDx United States	20	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GABA Metabolism Deficiency NGS Panel Fulgent Genetics United States	24	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neurotransmitter Metabolism Deficiency NGS Panel Fulgent Genetics United States	85	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Parkinson Disease: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	20	24	C Sequence analysis of the entire coding region
Parkinson Disease Asper Biogene Asper Biogene LLC Estonia	42	30	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.