Clinical and research tests for C0751781 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
DRPLA - Dentatorubral-Pallidoluysian Atrophy Center for Genetics at Saint Francis Saint Francis Hospital United States	1	1	T Targeted variant analysis
DRPLA Gene Analysis Mayo Clinic Laboratories Mayo Clinic United States	1	1	T Targeted variant analysis
Atrophin 1 (ATN1) gene CAG triplet repeat test Neurogenetics Cyprus Institute of Neurology and Genetics Cyprus	1	1	T Targeted variant analysis
ATN1 - Repeat expansion analysis Centogene AG - the Rare Disease Company Germany	2	1	T Targeted variant analysis
ATN1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dentatorubro-pallidoluysian atrophy, 125370, Autosomal dominant; DRPLA (Dentatorubral pallidoluysian atrophy)(Repeat Analysis) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	T Targeted variant analysis
Dentatorubro-pallidoluysian atrophy, 125370, Autosomal dominant; DRPLA (Dentatorubral pallidoluysian atrophy) (Prenatal)(Repeat Analysis) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	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
Dentatorubral-Pallidoluysian Atrophy (DRPLA) via the ATN1 CAG Repeat Expansion PreventionGenetics, part of Exact Sciences United States	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
Dentatorubral-pallidoluysian atrophy (DRPLA, CAG repeat expansion on ATN1 gene) CGC Genetics Unilabs Portugal	1	1	T Targeted variant analysis
Genetic Test for Dentatorubral-pallidoluysian atrophy - DRPLA CGPP - Center for Predictive and Preventive Genetics IBMC - Institute for Cell and Molecular Biology Portugal	1	1	D Deletion/duplication analysis
Genetic Test for Spinocerebellar Ataxias - SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 and DRPLA CGPP - Center for Predictive and Preventive Genetics IBMC - Institute for Cell and Molecular Biology Portugal	7	7	D Deletion/duplication analysis
Dentatorubral-pallidoluysian atrophy: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
DRPLA (ATN1) Genetic Testing (Repeat expansion) MNG Laboratories (Medical Neurogenetics, LLC.) United States	1	1	E Sequence analysis of select exons
Spinocerebellar Ataxia Repeat Panel (SCA 8, 10, 12, 17, 36, & DRPLA) MNG Laboratories (Medical Neurogenetics, LLC.) United States	6	6	T Targeted variant analysis
Comprehensive Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36, DRPLA & FRDA) MNG Laboratories (Medical Neurogenetics, LLC.) United States	12	12	T Targeted variant analysis
Ataxia Repeat Expansion Analysis Fulgent Genetics United States	19	15	T Targeted variant analysis
ATN1 (Dentatorubral-Pallidoluysian Atrophy) Repeat Expansion Fulgent Genetics United States	1	1	T Targeted variant analysis

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