Clinical and research tests for 183090 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Amyotrophic lateral sclerosis, susceptibility to, 13, 183090, Autosomal dominant (Spinocerebellar ataxia type 2) (ATXN2 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
Spinocerebellar ataxia 2, 183090, Autosomal dominant (Spinocerebellar ataxia type 2) (ATXN2 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
Spinocerebellar Ataxia Panel Mayo Clinic Laboratories Mayo Clinic United States	5	5	T Targeted variant analysis
Spinocerebellar Ataxia Panel (SCA1,2,3,6, and 7) Center for Genetics at Saint Francis Saint Francis Hospital United States	5	5	T Targeted variant analysis
SCA Panel (SCA1, 2, 3, 6, 7) test Neurogenetics Cyprus Institute of Neurology and Genetics Cyprus	5	5	T Targeted variant analysis
Ataxin 2 (ATXN2) gene CAG triplet repeat test Neurogenetics Cyprus Institute of Neurology and Genetics Cyprus	1	1	T Targeted variant analysis
ATXN2 - Repeat expansion analysis Centogene AG - the Rare Disease Company Germany	2	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
Ataxia / Spastic Paraplegia Comprehensive Panel Centogene AG - the Rare Disease Company Germany	451	452	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia Repeat Expansion Panel Centogene AG - the Rare Disease Company Germany	13	13	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
Amyotrophic Lateral Sclerosis (ALS) Panel PreventionGenetics, part of Exact Sciences United States	32	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Spinocerebellar Ataxia Type 2 via the ATXN2 CAG Repeat Expansion PreventionGenetics, part of Exact Sciences United States	2	1	T Targeted variant analysis
Genomic UnityⓇ Ataxia Repeat Expansion Analysis (STR analysis of 16 loci) Variantyx, Inc. United States	15	13	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Genomic UnityⓇ Comprehensive Ataxia Analysis (includes STR analysis of 16 loci) Variantyx, Inc. United States	52	53	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Spinocerebellar ataxia type 2 presymptomatic testing Genetics Service Unit BRIC-National Institute of Biomedical Genomics India	1	1	T Targeted variant analysis
Spinocerebellar ataxia type 2 Genetics Service Unit BRIC-National Institute of Biomedical Genomics India	1	1	T Targeted variant analysis
Ataxia Repeat Expansion Panel Genetic Services Laboratory University of Chicago United States	14	14	X Mutation scanning of select exons
Spinocerebellar ataxia type 2 Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	1	T Targeted variant analysis
Spinocerebellar ataxia 2 (SCA2, CAG expansion on ATXN2 gene) CGC Genetics Unilabs Portugal	1	1	T Targeted variant analysis

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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.