Clinical and research tests for 600116 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Parkinson disease, juvenile, type 2, 600116, Autosomal recessive; PARK2 (Young-onset Parkinson disease) (PRKN 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
VIM - 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
PRKN - MLPA Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis
PRKN - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	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
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
Parkinson Disease Panel PreventionGenetics, part of Exact Sciences United States	27	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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's Disease, Juvenile via the PRKN/PARK2 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Parkinson's disease panel. NGS panel of 22 genes. Genologica Medica Spain	45	22	C Sequence analysis of the entire coding region
Parkinson deletion/duplication analysis Duzen Laboratories Duzen BBAGUAS Turkey	8	8	D Deletion/duplication analysis
Parkinson Juvenil, PARK2 Duzen Laboratories Duzen BBAGUAS Turkey	1	1	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
Parkinson Disease: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	20	24	C Sequence analysis of the entire coding region
PARKINSON, RECESSIVE JUVENILE (PARK2) Laboratorio de Genetica Clinica SL Spain	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Parkinson Disease Asper Biogene Asper Biogene LLC Estonia	42	30	C Sequence analysis of the entire coding region
Dystonia Asper Biogene Asper Biogene LLC Estonia	39	40	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Parkinson disease type 2 Bioarray Spain	1	1	D Deletion/duplication analysis
Single gene testing PANK2 CeGaT GmbH Germany	5	1	C Sequence analysis of the entire coding region
Parkinson Syndrome, autosomal recessive Panel CeGaT GmbH Germany	9	11	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.