Orphanet: Molecular diagnosis of Hajdu Cheney Syndrome NOTCH2 gene: Sequencing of selected exons Testing for known mutations in family members
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Molecular diagnosis of Hajdu-Cheney Syndrome (NOTCH2 gene: Sequencing of selected exons / 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 13/06/2014
  • Molecular Genetics (DNA) Laboratory (part of the SE Thames Regional Genetics Service)
  • Genetics Centre Floor 5 Tower Wing, Tower Wing
  • Guy's Hospital
  • Great Maze Pond
  • LONDON SE1 9RT
  • UNITED KINGDOM
  • Director of laboratory : Mr David ELLIS
  • More information
  • Phone : 44 (0)207 188 2582
  • Additional Phone : 44 (0)207 188 1696
  • Fax : 44 (0)207 188 7273
  • Website
  • Contact
Last update: June 2014

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
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Mutation scanning/screening and sequence analysis of selected exons
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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.