Clinical and research tests for C0338451 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Frontotemporal Dementia (FTD) - PGRN Gene Center for Genetics at Saint Francis Saint Francis Hospital United States	2	1	C Sequence analysis of the entire coding region
Frontotemporal Dementia w/ Parkinsonism (FTDP) - MAPT Gene Center for Genetics at Saint Francis Saint Francis Hospital United States	1	1	C Sequence analysis of the entire coding region
Frontotemporal Dementia (FTDP) - MAPT Gene, Exon 10 Only Center for Genetics at Saint Francis Saint Francis Hospital United States	1	1	E Sequence analysis of select exons
C9orf72 Hexanucleotide Repeat Expansion Analysis Molecular Pathology Laboratory University of Pennsylvania Health System United States	2	1	T Targeted variant analysis
Alzheimer's Disease, Familial, Plus APOE Panel PreventionGenetics, part of Exact Sciences United States	5	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Frontotemporal Dementia with C9orf72 Panel Labcorp Genetics (formerly Invitae) LabCorp United States	30	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MAPT - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PSEN1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Genomic Unity® Dementia Analysis Variantyx, Inc. United States	6	32	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	346	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Dementia, Plus APOE Panel PreventionGenetics, part of Exact Sciences United States	27	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) Panel PreventionGenetics, part of Exact Sciences United States	45	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dementia, frontotemporal, with or without parkinsonism, 600274, Autosomal dominant (Frontotemporal dementia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Dementia, frontotemporal, with or without parkinsonism, 600274, Autosomal dominant (Frontotemporal dementia) (MAPT 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
Dementia, frontotemporal, 600274, Autosomal dominant(Behavioral variant of frontotemporal dementia) (PSEN1 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
Dementia, frontotemporal, 600274, Autosomal dominant(Behavioral variant of frontotemporal dementia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Genomic Unity Motor Neuron Disorders Analysis (includes AR, C9ORF72 STR analysis) Variantyx, Inc. United States	14	118	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Parkinson Disease and Parkinsonism Panel PreventionGenetics, part of Exact Sciences United States	70	71	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Frontotemporal Dementia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	29	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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