Clinical and research tests for 604326 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Spinocerebellar ataxia 12, 604326, Autosomal dominant (Spinocerebellar ataxia type 12) (PPP2R2B 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
DICER1 Gene Pleuropulmonary blastoma NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Protein phosphatase 2, regulatory subunit B (PPP2R2B) gene CAG triplet repeat test Neurogenetics Cyprus Institute of Neurology and Genetics Cyprus	1	1	T Targeted variant analysis
PPP2R2B - Repeat expansion analysis Centogene AG - the Rare Disease Company Germany	1	1	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 / Spastic Paraplegia Panel Centogene AG - the Rare Disease Company Germany	442	443	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
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
Ataxia Repeat Expansion Panel Genetic Services Laboratory University of Chicago United States	14	14	X Mutation scanning of select exons
Spinocerebellar ataxia 12 (SCA12, detection of CAG expansion on PPP2R2B gene) CGC Genetics Unilabs Portugal	1	1	T Targeted variant analysis
Genetic Test for Spinocerebellar Ataxia Type 12 - SCA12 CGPP - Center for Predictive and Preventive Genetics IBMC - Institute for Cell and Molecular Biology Portugal	1	1	D Deletion/duplication analysis
Hereditary ataxias. NGS panel of 139 genes. Genologica Medica Spain	220	139	C Sequence analysis of the entire coding region
Ataxia panel. NGS panel of 157 genes. Genologica Medica Spain	247	156	C Sequence analysis of the entire coding region
Spinocerebellar Ataxia (SCA) Type 12 Duzen Laboratories Duzen BBAGUAS Turkey	1	1	T Targeted variant analysis
SCA12 (PPP2R2B) Genetic Testing (Repeat expansion) MNG Laboratories (Medical Neurogenetics, LLC.) United States	1	1	E Sequence analysis of select exons
Spinocerebellar ataxia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	38	37	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
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

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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.