Orphanet: Diagnostic des maladies h���r���ditaires du m���tabolisme interm���diaire Panel
x

Search for a diagnostic test

* (*) mandatory field

Diagnosis of hereditary intermediate metabolic diseases (Panel)

  • Biochimie/ Plateau technique de Biologie Molculaire
  • Ple Biologie et Pathologie
  • CHU de Bordeaux-GH Pellegrin
  • Place Amlie Raba-Lon
  • 33076 BORDEAUX CEDEX
  • FRANCE
  • Director of laboratory : Pr Emmanuel RICHARD
  • More information
  • Phone : 33 (0)5 56 79 59 91
  • Additional Phone : -
  • Fax : 33 (0)5 56 79 56 73
  • Contact
Last update: November 2022

Responsible of diagnostic test

Purpose(s)

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 (166)
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.