Clinical and research tests for C3888102 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
C9orf72 Hexanucleotide Repeat Expansion Analysis Molecular Pathology Laboratory University of Pennsylvania Health System United States	2	1	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
C9orf72 - Repeat expansion analysis Centogene AG - the Rare Disease Company Germany	1	1	T Targeted variant analysis
Amyotrophic Lateral Sclerosis (ALS) / Dementia Panel Centogene AG - the Rare Disease Company Germany	64	66	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Amyotrophic Lateral Sclerosis (ALS) Panel PreventionGenetics, part of Exact Sciences United States	36	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550, Autosomal dominant; FTDALS1 (Frontotemporal dementia with motor neuron disease) (C9orf72 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
C9orf72 Molecular Genetics Laboratory Alberta Precision Labs Canada	1	1	T Targeted variant analysis
C9orf72 Gene Hexanucleotide Repeat Expansion PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis T Targeted variant analysis
Frontotemporal dementia and/or Amyotrophic Lateral Sclerosis: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	30	30	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	D Deletion/duplication analysis C Sequence analysis of the entire coding region
C9orf72 Repeat Expansion Fulgent Genetics United States	1	1	T Targeted variant analysis
Alzheimer Disease, Panel Massive Sequencing (NGS) 8 Genes Reference Laboratory Genetics Spain	8	8	C Sequence analysis of the entire coding region
C9orf72 Repeat Expansion Testing MNG Laboratories (Medical Neurogenetics, LLC.) United States	1	1	C Sequence analysis of the entire coding region
AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL DOMINANT) Laboratorio de Genetica Clinica SL Spain	14	17	C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic Lateral Sclerosis Advanced Evaluation Athena Diagnostics Inc United States	19	17	C Sequence analysis of the entire coding region T Targeted variant analysis
TBK1 Single Gene Fulgent Genetics United States	16	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NGS panel - dementia/ALS Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	42	54	D Deletion/duplication analysis S Mutation scanning of the entire coding region T Targeted variant analysis
Hereditary Ataxia Asper Biogene Asper Biogene LLC Estonia	180	139	C Sequence analysis of the entire coding region

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