Clinical and research tests for C4551624 - Genetic Testing Registry (GTR)

Results: 1 to 15 of 15

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SLC20A2 - 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
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 Invitae United States	971	680	D Deletion/duplication analysis
Invitae Overgrowth Syndromes Panel Invitae United States	96	53	D Deletion/duplication analysis 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
Idiopathic Basal Ganglia Calcification Panel PreventionGenetics, part of Exact Sciences United States	4	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Basal Ganglia Calcification NGS Panel Fulgent Genetics United States	4	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NGS panel - Parkinson Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	27	28	D Deletion/duplication analysis S Mutation scanning of the entire coding region T Targeted variant analysis
SLC20A2 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5127	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability NGS Panel Fulgent Genetics United States	1057	554	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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.

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Results: 1 to 15 of 15

Results: 1 to 15 of 15