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Diagnosis of pseudohypoparathyroidism (GNAS gene: sequencing, methylation status)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 04/07/2016
  • Molekulargenetisches Labor
  • Klinik für Kinder- und Jugendmedizin
  • Universitätsklinikum Schleswig-Holstein - Campus Lübeck
  • Ratzeburger Allee 160
  • 23538 LÜBECK
  • GERMANY
  • Director of laboratory : Pr Olaf HIORT
  • More information
  • Phone : 49 (0)451 3101 7615
  • Additional Phone : -
  • Fax : -
  • Website
Last update: July 2016

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Methylation analysis
MLPA based techniques
Biochemical genetics
Analyte / Enzyme assay
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Protein expression
Immunohistochemistry

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (1)

Additional information

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.