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Results: 1 to 12 of 12

Tests names and labsConditionsGenes and analytesMethods

Cockayne Syndrome via the ERCC6 Gene

PreventionGenetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Single gene testing ERCC6

CeGaT GmbH
Germany
41
  • C Sequence analysis of the entire coding region

ERCC6 Gene Sequencing

DDC Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
61
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ERCC6

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
61
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Chromosomal Instability Syndromes NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cockayne Syndrome NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
82
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Combined Respiratory Chain Defects

Medizinisch Genetisches Zentrum München MGZ München
Germany
332
  • C Sequence analysis of the entire coding region

Mitochondrial Ataxia

Medizinisch Genetisches Zentrum München MGZ München
Germany
310
  • C Sequence analysis of the entire coding region

Leigh Syndrome

Medizinisch Genetisches Zentrum München MGZ München
Germany
323
  • C Sequence analysis of the entire coding region

Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel

Emory Genetics Laboratory Emory University
United States
7745
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
752392
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Macular Degeneration NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
6420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 12 of 12

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.