Clinical and research tests for 25814 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Ataxin 10 (ATXN10) gene ATTCT repeat test Neurogenetics Department Cyprus Institute of Neurology and Genetics Cyprus	1	1	T Targeted variant analysis
ATXN10 - 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 Repeat Expansion Panel Centogene AG - the Rare Disease Company Germany	13	13	T Targeted variant analysis
Spinocerebellar ataxia 10, 603516, Autosomal dominant (Spinocerebellar ataxia type 10)(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
Ataxia Repeat Expansion Panel Genetic Services Laboratory University of Chicago United States	13	13	X Mutation scanning of select exons
Genomic Unity® Renal Disorders Analysis Variantyx, Inc. United States	1	425	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
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
Ciliopathies Panel CGC Genetics Unilabs Portugal	1	178	C Sequence analysis of the entire coding region
Spinocerebellar ataxia 10 (SCA10, ATTCT expansion on ATXN10 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
GLOBAL CILIOPATHIES EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	273	E Sequence analysis of select exons
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 10 - SCA10 CGPP - Center for Predictive and Preventive Genetics IBMC - Institute for Cell and Molecular Biology Portugal	1	1	D Deletion/duplication analysis
CoGenesis@Neuro Codex Genetics Limited Hong Kong	1	490	T Targeted variant analysis
Spinocerebellar Ataxia (SCA) Type 10 Duzen Laboratories Duzen BBAGUAS Turkey	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.