Search for a diagnostic test

* (*) mandatory field

Diagnosis of Blackfan-Diamond anemia (RPS19, RPS24 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 30/01/2020
  • Abteilung Molekulare Diagnostik, Molekulare Therapie und Experimentelle Transplantation
  • Institut fr Klinische Transfusionsmedizin und Immungenetik Ulm
  • DRK Baden-Wrttemberg/ Hessen
  • Helmholtzstrae 10
  • 89081 ULM
  • Director of laboratory : Dr Klaus SCHWARZ
  • More information
  • Phone : 49 (0)731 150 642
  • Additional Phone : 49 (0)731 150 622
  • Fax : 49 (0)731 150 645
  • Website
Last update: January 2020

Responsible of diagnostic test


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.