Clinical and research tests for C2750442 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SLC30A10 - 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 Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Cholestasis Panel Invitae United States	210	134	D Deletion/duplication analysis
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States	351	249	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
Hypermanganesemia with dystonia 1, 613280, Autosomal recessive; HMNDYT1 (Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome) (SLC30A10 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
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States	247	163	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
Invitae Treatable Neurometabolic Disorders Panel Invitae United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
SLC30A10 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Hypermanganesemia with dystonia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	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
Single gene testing SLC30A10 CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region
Dystonia All Panel CeGaT GmbH Germany	49	54	C Sequence analysis of the entire coding region
Dystonia Plus Syndrome Panel CeGaT GmbH Germany	15	14	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.