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Results: 1 to 20 of 33

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
6021038
  • C Sequence analysis of the entire coding region

Hyperekplexia

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyperekplexia

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyperekplexia

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GPHN-Related Hyperekplexia

(AC) Atlanta Center: Medical Neurogenetics, LLC.
United States
11
  • C Sequence analysis of the entire coding region

GLRB-Related Hyperekplexia

(AC) Atlanta Center: Medical Neurogenetics, LLC.
United States
11
  • C Sequence analysis of the entire coding region

GLRA1-Related Hyperekplexia

(AC) Atlanta Center: Medical Neurogenetics, LLC.
United States
11
  • C Sequence analysis of the entire coding region

SLC6A5. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

GLRA1. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

GLRB. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

nucSEEKĀ® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Startle syndrome: GLRA1, GLRB and SLC6A5 genes deletions-duplications analysis (MLPA)

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
33
  • D Deletion/duplication analysis

GPHN Gene Sequencing

DDC Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
21
  • C Sequence analysis of the entire coding region

Hereditary hyperekplexia type 1

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Hyperekplexia, hereditary 1 (deletion/duplication analysis of GLRA1 gene)

CGC Genetics
Portugal
11
  • D Deletion/duplication analysis

Hyperekplexia, hereditary 1 (sequence analysis of GLRA1 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Single gene testing GLRA1

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Hyperekplexia NGS Panel

DDC Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
55
  • C Sequence analysis of the entire coding region

Metabolic Epilepsy Panel

CeGaT GmbH
Germany
337
  • C Sequence analysis of the entire coding region

Hyperekplexia Panel

CeGaT GmbH
Germany
95
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 33

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.