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Results: 1 to 20 of 61

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

Invitae
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 Hospital
United States
480254
  • C Sequence analysis of the entire coding region

Invitae Mendelian Disorders with Psychiatric Symptoms Panel

Invitae
United States
247163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dystonia Panel

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

Invitae Epilepsy Panel

Invitae
United States
442298
  • D Deletion/duplication analysis

Invitae Dystonia Comprehensive Panel

Invitae
United States
6138
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myoclonus-Dystonia Syndrome via the SGCE Gene

PreventionGenetics
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 MLPA Duplication/Deletion Analysis

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
11
  • D Deletion/duplication analysis

SGCE Full Gene Sequencing Analysis + MLPA Duplication/Deletion Analysis

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
11
  • C Sequence analysis of the entire coding region

SGCE Full Gene Sequencing Analysis

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 61

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.