Orphanet: Molecular diagnosis of Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome PAX6 gene: full intragenic mutation screen
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Molecular diagnosis of Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome (PAX6 gene: full intragenic mutation screen)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 23/07/2014
  • Wessex Regional Genetics Laboratory
  • Salisbury District Hospital
  • Odstock Road
  • SALISBURY SP2 8BJ
  • UNITED KINGDOM
  • Director of laboratory : Dr John CK BARBER
  • More information
  • Phone : 44 (0)1722 429 080
  • Additional Phone : -
  • Fax : 44 (0)1722 338 095
  • Website
Last update: July 2014

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
MLPA based techniques

List of diseases and genes

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.