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
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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
  • PORTUGAL
  • 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

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

Additional information

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