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Results: 1 to 20 of 41

Tests names and labsConditionsGenes, analytes, and microbesMethods

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Cerebral Palsy Spectrum Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
638419
  • D Deletion/duplication analysis

Dystonia-11, myoclonic, 159900, Autosomal dominant; DYT11 (Myoclonus-dystonia syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Dystonia-11, myoclonic, 159900, Autosomal dominant; DYT11 (Myoclonus-dystonia syndrome) (SGCE gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
480254
  • C Sequence analysis of the entire coding region

Invitae Mendelian Disorders with Psychiatric Symptoms Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
247163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dystonia Panel

PreventionGenetics, part of Exact Sciences
United States
1717
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Epilepsy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
466297
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Dystonia Comprehensive Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
6138
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myoclonus-Dystonia Syndrome via the SGCE Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SGCE MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • D Deletion/duplication analysis

Dystonia panel. NGS panel of 20 genes.

Genologica Medica
Spain
3520
  • C Sequence analysis of the entire coding region

Skeletal diseases. NGS panel of 169 genes.

Genologica Medica
Spain
373169
  • C Sequence analysis of the entire coding region

SGCE - Gene sequencing

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dystonia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1918
  • C Sequence analysis of the entire coding region

Myoclonus-Dystonia (SGCE Single Gene Test)

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 41

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.