Orphanet: Diagnostic de l_hypoalphalipoprot�in�mie et de Hyperchylomicron�mie familiale Panel
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Diagnosis of hypoalphalipoproteinemia and familial hyperchylomicronemia (Panel)

  • UF gntique de l'obsit et des dyslipidmies
  • Service de biochimie endocrinienne et oncologique
  • APHP.Sorbonne Universit, Hpital de la Piti-Salptrire
  • 47-83 boulevard de l'Hpital
  • 75013 PARIS
  • FRANCE
  • Director of laboratory : Pr Alain CARRIE
  • More information
  • Phone : 33 (0)1 42 17 76 50
  • Additional Phone : -
  • Fax : 33 (0)1 42 17 76 18
  • Website
  • Contact
Last update: February 2020

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
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