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Diagnosis of dystrophic epidermolysis bullosa pruriginosa (COL7A1 gene)

  • LabGenetics
  • LabGenetics - Laboratorio de Gentica Clnica, S.L.
  • Calle Poeta Rafael Morales, 2, 2 planta
  • 28702 SAN SEBASTIN DE LOS REYES
  • SPAIN
  • Director of laboratory : Dr Jorge PUENTE PRIETO
  • More information
  • Phone : 34 916 59 22 98
  • Additional Phone : -
  • Fax : 34 916 59 22 99
  • Website
  • Contact
Last update: October 2018

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis
Risk assessment

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (1)
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.