Clinical and research tests for C2677567 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PRKRA - 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
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Dystonia 16, 612067, Autosomal recessive (Dystonia 16) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Dystonia 16, 612067, Autosomal recessive (Dystonia 16) (PRKRA 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
Dystonia Panel PreventionGenetics, part of Exact Sciences United States	17	17	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
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
PRKRA Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
PRKRA MLPA Institute for Human Genetics University Medical Center Freiburg Germany	1	1	D Deletion/duplication analysis
Parkinson's disease panel. NGS panel of 22 genes. Genologica Medica Spain	45	22	C Sequence analysis of the entire coding region
Dystonia panel. NGS panel of 20 genes. Genologica Medica Spain	35	20	C Sequence analysis of the entire coding region
Dystonia and Parkinsonism Panel GeneDx United States	20	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dystonia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	19	18	C Sequence analysis of the entire coding region
DYSTONIA-PARKINSONISM, EARLY ONSET (DYT16) Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes Reference Laboratory Genetics Spain	21	13	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.