Orphanet: Molecular Diagnosis of Inborn Error of Metabolism 75 gene NGS Panel
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Molecular Diagnosis of Inborn Error of Metabolism - 75 gene NGS Panel

  • Phone : 1-877-NBS-8330 (1-877-627-8330)
  • Additional Phone : (613) 738-3222
  • Fax : 613-738-0853
  • Website
  • Contact
Last update: July 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis
Newborn screening

Technical procedure(s)

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

List of diseases and genes

List of diseases tested (88)

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.