Clinical and research tests for 6315 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
HTRA2 Gene PARK13 Parkinson NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
ATXN8OS Gene Spinocerebellar ataxia type 8, autosomal dominant NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Spinocerebellar Ataxia 8 CTA/CTG repeat test Neurogenetics Cyprus Institute of Neurology and Genetics Cyprus	1	1	T Targeted variant analysis
ATXN8OS - Repeat expansion analysis Centogene AG - the Rare Disease Company Germany	2	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
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
SCA8 (ATXN8OS) Repeat Expansion Test Athena Diagnostics United States	1	1	T Targeted variant analysis
Spinocerebellar ataxia type 8 Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	1	T Targeted variant analysis
PANEL-2 SCA: SCA6,SCA7&SCA8 Laboratorio de Genetica Clinica SL Spain	1	3	T Targeted variant analysis
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
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
ATXN8OS (Spinocerebellar Ataxia 8) Repeat Expansion Fulgent Genetics United States	1	1	T Targeted variant analysis
Ataxia Repeat Expansion Analysis Fulgent Genetics United States	19	15	T Targeted variant analysis
Parkinson Disease: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	20	24	C Sequence analysis of the entire coding region
Spinocerebellar ataxia type 8 Molecular Genetics Laboratory North York General Hospital Canada	1	1	T Targeted variant analysis
SPINOCEREBELLAR ATAXIA (AUTOSOMAL DOMINANT) (SCAs) Laboratorio de Genetica Clinica SL Spain	18	19	C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia, Complete Dominant Evaluation Athena Diagnostics United States	31	25	C Sequence analysis of the entire coding region 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.