Clinical and research tests for 605237 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
KIF7 Gene Acrocallosal syndrome NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
XPR1 Gene Basal ganglia calcification type 6, idiopathic NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Parkinson Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	94	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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 Labcorp Genetics (formerly Invitae) LabCorp 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 Labcorp Genetics (formerly Invitae) LabCorp United States	61	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Parkinson Disease Panel GeneDx United States	1	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Structural diseases of basal ganglia (WES based NGS panel of 72 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	73	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
Neurodegenerative panel _v.2.0 CGC Genetics Unilabs Portugal	15	207	C Sequence analysis of the entire coding region
Parkinson's and movement disorders panel_v.2.0 CGC Genetics Unilabs Portugal	1	256	C Sequence analysis of the entire coding region
Dystonia Panel GeneDx United States	1	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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

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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.