Clinical and research tests for C5700336 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 33

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SLC6A3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	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
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Parkinson Disease Panel Centogene AG - the Rare Disease Company Germany	78	76	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States	351	249	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
Parkinsonism-dystonia, infantile, 613135, Autosomal recessive; PARK8 (Infantile dystonia-parkinsonism) (SLC6A3 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
Infantile Parkinsonism-Dystonia Panel PreventionGenetics, part of Exact Sciences United States	6	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Infantile Parkinsonism-Dystonia 1 or Dopamine Transporter Deficiency Syndrome via the SLC6A3 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
SLC6A3 - Infantile parkinsonism-dystonia Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Invitae Treatable Neurometabolic Disorders Panel Invitae United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Neurotransmitter Disorders Panel Invitae United States	52	44	D Deletion/duplication analysis 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
SLC6A3 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Parkinson's disease panel. NGS panel of 22 genes. Genologica Medica Spain	45	22	C Sequence analysis of the entire coding region
Ciliary dyskinesia and heterotaxia. NGS panel of 40 genes. Genologica Medica Spain	49	40	C Sequence analysis of the entire coding region
Parkinsonism-dystonia, infantile: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 33

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.