Clinical and research tests for 79734 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
KCTD17 Gene DYT26, myoclonic NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning 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
Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	638	419	D Deletion/duplication analysis
Dystonia 26, myoclonic, 616398, Autosomal dominant (Myoclonus-dystonia syndrome) (KCTD17 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 Labcorp Genetics (formerly Invitae) LabCorp United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Genomic Unity Epilepsy Analysis (includes STR analysis of 6 loci) Variantyx, Inc. United States	1	378	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Dystonia Exome Genetic Services Laboratory University of Chicago United States	96	170	C Sequence analysis of the entire coding region
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
Cerebral Palsy Spectrum Disorders Panel Baylor Genetics United States	1	419	C Sequence analysis of the entire coding region
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal	10	930	C Sequence analysis of the entire coding region
Parkinson's and movement disorders panel_v.2.0 CGC Genetics Unilabs Portugal	1	256	C Sequence analysis of the entire coding region
Dystonia (WES based NGS panel of 117 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	117	C Sequence analysis of the entire coding region
Dystonia Panel Mendelics Brazil	1	36	C Sequence analysis of the entire coding region
Expanded Epilepsy Panel Mendelics Brazil	1	240	C Sequence analysis of the entire coding region
CoGenesis@Neuro Codex Genetics Limited Hong Kong	1	490	T Targeted variant analysis
Dystonia Panel GeneDx United States	1	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Xpanded Adult Movement Disorders Panel GeneDx United States	5	473	C Sequence analysis of the entire coding region
Nonsyndromic Intellectual Disability (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	19	560	C Sequence analysis of the entire coding region
Myoclonic Epilepsy (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	14	125	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.