Orphanet: Diagnostik der Chondrodysplasia punctata Gene: AGPS, ARSE, EBP, GNPAT, PEX7
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Diagnosis of chondrodysplasia punctata (AGPS, ARSE, EBP, GNPAT, PEX7 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 31/01/2017
  • Pränatal-Medizin München, Frauenärzte und Humangenetiker, Labor für molekulare Genetik
  • Pränatal-Medizin München MVZ GmbH
  • Aiblingerstr. 8
  • 80639 MÜNCHEN
  • GERMANY
  • Director of laboratory : Dr Christoph BAGOWSKI
  • More information
  • Phone : 49 (0)89 1307 44 0
  • Additional Phone : -
  • Fax : 49 (0)89 1307 44 99
  • Website
  • Contact
Last update: January 2017

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of diseases tested (3)
Brachytelephalangic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata
X-linked dominant chondrodysplasia punctata
List of genes tested (including panels) (5)
AGPS
ARSE
EBP
GNPAT
PEX7

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.