Orphanet: Diagnostik der Holoprosenzephalie NGS Panel Holoprosenzephalie, 7 Gene
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Diagnosis of holoprosencephaly (NGS panel holoprosencephaly, 7 genes)

  • Zentrum für Humangenetik Regensburg
  • Universitätsklinikum Regensburg
  • Franz-Josef-Strauß-Allee 11
  • 93053 REGENSBURG
  • GERMANY
  • Director of laboratory : Pr Ute HEHR
  • More information
  • Phone : 49 (0)941 944 5410
  • Additional Phone : -
  • Fax : 49 (0)941 944 5402
  • Website
  • Contact
Last update: February 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA 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.