Clinical and research tests for 611420 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Spastic paraplegia type 11 (SPG11, deletion/duplication analysis of SPG11 gene) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication analysis
CIZ1 Gene Cervical dystonia NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	638	419	D Deletion/duplication 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
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
Neurodegenerative panel _v.2.0 CGC Genetics Unilabs Portugal	15	207	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
Cervical dystonia (sequence analysis of CIZ1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	1202	E Sequence analysis of select exons
DYSTONIA EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	119	E Sequence analysis of select exons
CoGenesis@Neuro Codex Genetics Limited Hong Kong	1	490	T Targeted variant analysis
Xpanded Adult Movement Disorders Panel GeneDx United States	5	473	C Sequence analysis of the entire coding region
Ataxia Xpanded Panel GeneDx United States	1	999	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CIZ1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DYSTONIA CERVICAL PRIMARY Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Neurogenetic Disorders - panels MGZ Medical Genetics Center Germany	14	597	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dystonia All Panel CeGaT GmbH Germany	49	54	C Sequence analysis of the entire coding region
Primary Torsion Dystonia Panel CeGaT GmbH Germany	2	9	C Sequence analysis of the entire coding region

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Results: 1 to 20 of 22

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.