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Molecular diagnosis of pseudohypoparathyroidism Type 1 A (GNAS gene: Sequencing of the entire coding region of gene (s) / Testing for known mutations in family members)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 21/05/2014
  • NE Thames Regional Genetics Service
  • Level 5 & 6
  • Great Ormond Street Hospital for Children, York House
  • 37 Queen Square
  • Director of laboratory : Ms Lucy JENKINS
  • More information
  • Phone : 44 (0)207 829 8870
  • Additional Phone : -
  • Fax : 44 (0)20 7813 8578
  • Website
  • Contact
Last update: May 2014

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region

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.