Orphanet: Diagnóstico molecular pré natal e pós natal de mucopolissacaridose tipo 3B, 3C, 3D, 4B, 7 e 9 genes NAGLU, HGSNAT, GNS, GLB1, GUSB, HYAL1: sequenciação de toda a região codificante

Search for a diagnostic test

* (*) mandatory field

Prenatal and postnatal molecular diagnosis of mucopolysaccharidosis type 3B, 3C, 3D, 4B, 7 and 9 (NAGLU, HGSNAT, GNS, GLB1, GUSB, HYAL1 genes: sequencing of entire coding region)

  • CGC Genetics / Centro de Gentica Clnica
  • CGC Genetics / Centro de Gentica Clnica
  • Rua de S da Bandeira 706, 1
  • 4000-432 PORTO
  • Director of laboratory : Dr Jorge PINTO BASTO
  • More information
  • Phone : 351 223 389 900
  • Additional Phone : -
  • Fax : 351 222 088 710
  • Website
  • Contact
Last update: September 2018

Responsible of diagnostic test


Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

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.