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Molecular diagnosis of uniparental disomy of chromosomes 6, 7, 11, 14, 15, 16 and 20

  • Institut für Humangenetik
  • Universitätsklinikum Aachen
  • Pauwelsstr. 30
  • 52074 AACHEN
  • GERMANY
  • Director of laboratory : Pr Ingo KURTH
  • More information
  • Phone : 49 (0)241 80 80178
  • Additional Phone : -
  • Fax : 49 (0)241 80 82580
  • Website
  • Contact
Last update: August 2018

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
PCR based techniques
Sequence analysis: entire coding region
Sanger sequencing
Uniparental disomy study
Microsatellite analysis
Methylation analysis
MLPA based techniques
Methylation analysis
Array based techniques

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.