Clinical and research tests for 1822 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
DRPLA - Dentatorubral-Pallidoluysian Atrophy Center for Genetics at Saint Francis Saint Francis Hospital United States	1	1	T Targeted variant analysis
ATN1 Gene Dentatorubral-pallidoluysian atrophy NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
DRPLA Gene Analysis Mayo Clinic Laboratories Mayo Clinic United States	1	1	T Targeted variant analysis
Comprehensive Epilepsy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	318	D Deletion/duplication analysis S Mutation scanning of the entire coding region T Targeted variant analysis
Atrophin 1 (ATN1) gene CAG triplet repeat test Neurogenetics Department Cyprus Institute of Neurology and Genetics Cyprus	1	1	T Targeted variant analysis
ATN1 - Repeat expansion analysis Centogene AG - the Rare Disease Company Germany	2	1	T Targeted variant analysis
ATN1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Dentatorubro-pallidoluysian atrophy, 125370, Autosomal dominant; DRPLA (Dentatorubral pallidoluysian atrophy)(Repeat Analysis) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	T Targeted variant analysis
Dentatorubro-pallidoluysian atrophy, 125370, Autosomal dominant; DRPLA (Dentatorubral pallidoluysian atrophy) (Prenatal)(Repeat Analysis) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	T Targeted variant analysis
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies (CHEDDA) via the ATN1 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region 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
Dentatorubral-Pallidoluysian Atrophy (DRPLA) via the ATN1 CAG Repeat Expansion PreventionGenetics, part of Exact Sciences United States	1	1	T Targeted variant analysis
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark	1	600	S Mutation scanning 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
Epilepsy Panel CGC Genetics Unilabs Portugal	1	832	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.