Clinical and research tests for C1851945 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TOR1A - 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
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Dystonia-1, modifier of (Early-onset generalized limb-onset dystonia) (TOR1A 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
Dystonia-1, modifier of (Early-onset generalized limb-onset dystonia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Dystonia-1, torsion, 128100, Autosomal dominant (Early-onset generalized limb-onset dystonia)(Repeat Analysis) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	T Targeted variant analysis
Dystonia-1, torsion, 128100, Autosomal dominant (Early-onset generalized limb-onset dystonia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dystonia: DYT1 gene sequencing Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India	1	1	S Mutation scanning of the entire coding region
Dystonia Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India	1	1	T Targeted variant analysis
Dystonia Panel PreventionGenetics, part of Exact Sciences United States	17	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Dystonia Comprehensive Panel Invitae United States	61	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dystonia, Early Onset Primary (DYT1) Molecular Genetics Laboratory BC Children's and BC Women's Hospitals Canada	1	1	T Targeted variant analysis
DYT1 Early-Onset Isolated Dystonia via the TOR1A 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
TOR1A MLPA Institute for Human Genetics University Medical Center Freiburg Germany	2	1	D Deletion/duplication analysis
Dystonia panel. NGS panel of 20 genes. Genologica Medica Spain	35	20	C Sequence analysis of the entire coding region
DYT-1 Mutation Analysis Duzen Laboratories Duzen BBAGUAS Turkey	2	1	C Sequence analysis of the entire coding region
Dystonia (DYT1) Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey	1	1	X Mutation scanning of select exons
Dystonia and Parkinsonism Panel GeneDx United States	20	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TOR1A - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	1	1	C Sequence analysis of the entire coding region
TOR1A Institute for Human Genetics University Medical Center Freiburg Germany	2	1	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.