Clinical and research tests for 605955 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
HCN4 Gene Brugada syndrome type 8 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	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
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
Leukodystrophy and Leukoencephalopathy, Adult Onset Panel PreventionGenetics, part of Exact Sciences United States	46	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics, part of Exact Sciences United States	202	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Hereditary Spastic Paraplegia Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States	98	62	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NKX6-2 Institute for Human Genetics University Medical Center Freiburg Germany	1	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
Hereditary Spastic Paraplegia Panel CGC Genetics Unilabs Portugal	1	97	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 (WES based NGS panel of 117 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	117	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
Congenital Hypotonia Xpanded Panel GeneDx United States	10	1423	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autism/ID Xpanded Panel GeneDx United States	2	2592	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia Xpanded Panel GeneDx United States	1	999	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.