Clinical and research tests for C9orf72 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
C9orf72 Gene Amyotrophic lateral sclerosis with frontotemporal dementia NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
FTD and ALS Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	51	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
C9orf72, Molecular Analysis Mayo Clinic Laboratories Mayo Clinic United States	1	1	T Targeted variant analysis
Motor Neuron Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	2	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
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
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
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
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
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal	10	930	C Sequence analysis of the entire coding region
Frontotemporal dementia, Amyotrophic lateral sclerosi (detection of GGGGCC expansion on C9ORF72 gene) CGC Genetics Unilabs Portugal	1	1	T Targeted variant analysis
Frontotemporal dementia , Amyotrophic lateral sclerosi (sequencing and CNVs analysis of C9ORF72 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
AMYOTROPHIC LATERAL SCLEROSIS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	57	E Sequence analysis of select exons

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