Clinical and research tests for PPP2R2B - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
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
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 12 presymptomatic testing Genetics Service Unit BRIC-National Institute of Biomedical Genomics India	1	1	T Targeted variant analysis
Spinocerebellar ataxia type 12 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
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
Spinocerebellar ataxia 12 (SCA12, detection of CAG expansion on PPP2R2B gene) CGC Genetics Unilabs Portugal	1	1	T Targeted variant analysis
Spinocerebellar ataxia panel: SCA8, SCA10, SCA12 and SCA17 (detetion of expansion on ATXN8OS/ATXN8, ATXN10, PPP2R2B and TBP genes) CGC Genetics Unilabs Portugal	1	4	T Targeted variant analysis
Spinocerebellar ataxia panel: SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, SCA17 and Dentatorubral-pallidoluysian atrophy (DRPLA) CGC Genetics Unilabs Portugal	1	10	T Targeted variant analysis
PANEL-3 SCA: SCA10, SCA12, SCA17 & SCA36 Laboratorio de Genetica Clinica SL Spain	1	4	T Targeted variant analysis
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	1202	E Sequence analysis of select exons
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

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