Clinical and research tests for 614218 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
WDR81 Gene Mental retardation with Cerebellar ataxia and dysequilibrium syndrome type 2 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
WDR81 Gene Cerebellar ataxia with mental retardation and dysequilibrium syndrome type 2 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Ataxia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	199	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis Variantyx, Inc. United States	1	335	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
WDR81 - 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
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company Germany	406	414	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 / 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
Hydrocephalus Panel PreventionGenetics, part of Exact Sciences United States	41	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185, Autosomal recessive; CAMRQ2 (Dysequilibrium syndrome) (WDR81 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
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185, Autosomal recessive; CAMRQ2 (Dysequilibrium syndrome) (WDR81 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
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
Ataxia Exome Genetic Services Laboratory University of Chicago United States	289	481	C Sequence analysis of the entire coding region
Hydrocephalus Panel Genetic Services Laboratory University of Chicago United States	3	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
WDR81 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Hereditary ataxias panel_v.2.0 CGC Genetics Unilabs Portugal	1	427	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
Intellectual Disability Panel CGC Genetics Unilabs Portugal	1	1307	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.