x

Search for a diagnostic test

* (*) mandatory field

Diagnosis of TP63-related diseases

Despite our efforts to ensure that data is up to date, this activity has not been validated since 20/03/2019
  • Unità di Genetica Medica
  • Mauro Baschirotto Institute for Rare Diseases
  • B.I.R.D. Foundation
  • Via Bartolomeo Bizio 1
  • 36023 COSTOZZA DI LONGARE (VI)
  • ITALY
  • Director of laboratory : Dr Uros HLADNIK
  • More information
  • Phone : 390 444 555 557
  • Additional Phone : 390 444 555 930
  • Fax : -
  • Website
  • Contact
Last update: March 2019

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of diseases tested (5)
ADULT syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Bladder exstrophy
Cleft lip and alveolus
EEC syndrome
List of genes tested (1)
TP63
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.