Orphanet: Diagnostik der Holoprosenzephalie 3 und 7 SHH und PTCH1 Gen
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Diagnosis of Holoprosencephaly 3 and 7 (SHH, PTCH1 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 22/01/2014
  • SYNLAB Medizinisches Versorgungszentrum Humangenetik Mannheim GmbH
  • Zweigniederlassung der SYNLAB MVZ Mannheim GmbH
  • Zentrum für Humangenetik Mannheim
  • Harrlachweg 1
  • 68163 MANNHEIM
  • GERMANY
  • Director of laboratory : Dr Rüdiger KLÄS
  • More information
  • Phone : 49 (0)621 422 86 0
  • Additional Phone : -
  • Fax : 49 (0)621 422 86 88
  • Website
  • Contact
Last update: January 2014

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 (1)
List of genes tested (including panels) (2)

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.