Clinical and research tests for C0752120 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Spinocerebellar ataxia 1, 164400, Autosomal dominant (Spinocerebellar ataxia type 1) (ATXN1 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
Ataxia Exome Genetic Services Laboratory University of Chicago United States	289	481	C Sequence analysis of the entire coding region
Spinocerebellar Ataxia & Related Disorders Panel GeneDx United States	2	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Xpanded Adult Movement Disorders Panel GeneDx United States	5	473	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
Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes Reference Laboratory Genetics Spain	37	34	C Sequence analysis of the entire coding region
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 Inc United States	31	25	C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia, Comprehensive Evaluation Athena Diagnostics Inc United States	44	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Single gene testing ATXN1 CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region
Hereditary Ataxia Asper Biogene Asper Biogene LLC Estonia	180	139	C Sequence analysis of the entire coding region
Spinocerebellar ataxia type 1 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Ataxia, Panel SCA Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Ataxia and differential diagnoses Panel CeGaT GmbH Germany	173	204	C Sequence analysis of the entire coding region
Amyotrophic Lateral Sclerosis (ALS) Panel CeGaT GmbH Germany	29	54	C Sequence analysis of the entire coding region
ATXN1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.