Clinical and research tests for 600274 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
HBB - MLPA Centogene AG - the Rare Disease Company Germany	8	1	D Deletion/duplication analysis
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 Invitae 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 Invitae 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	48	39	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant 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	68	70	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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