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Molecular diagnosis of NARP/MILS syndrome (MT-ATP6 gene: m.8993T>C/G point mutation analysis by restriction digest and sequencing)

  • Sheffield Diagnostic Genetics Service
  • Sheffield Children's NHS Foundation Trust
  • Western Bank
  • SHEFFIELD S10 2TH
  • UNITED KINGDOM
  • Director of laboratory : Dr Ann DALTON
  • More information
  • Phone : 44 (0)114 271 7014
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
Last update: November 2011

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
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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.