Orphanet: Molecular and molecular cytogenetic diagnosis of Aniridia and WAGR syndrome PAX6 and WT1 analysis by FISH followed by sequencing
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Molecular and molecular cytogenetic diagnosis of Aniridia and WAGR syndrome (PAX6 and WT1 analysis by FISH followed by sequencing)

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 - Molecular Cytogenetics
  • Salisbury District Hospital
  • Odstock Road
  • SALISBURY SP2 8BJ
  • UNITED KINGDOM
  • Director of laboratory : Pr John A CROLLA
  • 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
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Cytogenetics
Detection of chromosome alterations large in size
FISH
Detection of microdeletions/microduplications
FISH

List of diseases and genes

List of genes tested (including panels) (2)
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.