Orphanet: Molecular Diagnosis of Leigh DiseaseMitochondrial Encephalopathy NGS Panel 119 genes

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Molecular Diagnosis of Leigh Disease/Mitochondrial Encephalopathy - NGS Panel (119 genes)

  • Phone : 1-877-NBS-8330 (1-877-627-8330)
  • Additional Phone : (613) 738-3222
  • Fax : 613-738-0853
  • Website
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Last update: January 2018

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (71)

Additional information

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.