Orphanet: Diagnostik des Gillespie Syndroms ITPR1 Gen
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Diagnosis of Gillespie syndrome (ITPR1 gene)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 10/08/2016
  • Gemeinschaftspraxis für Humangenetik Dres. Bier, Krüger und Reif
  • Gemeinschaftspraxis für Humangenetik
  • Gutenbergstr. 5
  • 01307 DRESDEN
  • GERMANY
  • Director of laboratory : Dr Stefan KRUEGER
  • More information
  • Phone : 49 (0)351 44 66 340
  • Additional Phone : -
  • Fax : 49 (0)351 44 66 3415
  • Website
  • Contact
Last update: August 2016

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

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.