Clinical and research tests for C4225335 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 16 of 16

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
XPR1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	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
Parkinson Disease Panel Centogene AG - the Rare Disease Company Germany	78	76	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hereditary Parkinson Disease and Parkinsonism Panel Invitae United States	44	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Basal ganglia calcification, idiopathic, 6, 616413, Autosomal dominant; IBGC6 (Bilateral striopallidodentate calcinosis) (XPR1 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
Basal ganglia calcification, idiopathic, 6, 616413, Autosomal dominant; IBGC6 (Bilateral striopallidodentate calcinosis) (XPR1 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
Parkinson Disease and Parkinsonism Panel PreventionGenetics, part of Exact Sciences United States	68	70	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Idiopathic Basal Ganglia Calcification Panel PreventionGenetics, part of Exact Sciences United States	4	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dystonia Exome Genetic Services Laboratory University of Chicago United States	93	170	C Sequence analysis of the entire coding region
Invitae Dystonia Comprehensive Panel Invitae United States	61	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Basal Ganglia Calcification Dystonia (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	5	63	C Sequence analysis of the entire coding region
Basal ganglia calcification, idiopathic: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	5	5	C Sequence analysis of the entire coding region
BILATERAL STRIOPALLIDODENTATE CALCINOSIS (BSPDC) Laboratorio de Genetica Clinica SL Spain	4	4	C Sequence analysis of the entire coding region
NGS panel - dementia/ALS Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	42	54	D Deletion/duplication analysis S Mutation scanning of the entire coding region T Targeted variant analysis
NGS panel - Parkinson Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	27	28	D Deletion/duplication analysis S Mutation scanning of the entire coding region T Targeted variant analysis
Single gene testing XPR1 CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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