x

Search for a diagnostic test

* (*) mandatory field

Diagnosis of Blackfan-Diamond Syndrome (ADA2, GATA1, RPL5, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPS7, RPS10, RPS15A, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29 and TSR2 gene)

  • Laboratorium voor Genoomdiagnostiek
  • Afdeling Humane Genetica
  • Amsterdam UMC, locatie VUmc
  • De Boelelaan 1117
  • 1081 HV AMSTERDAM
  • NETHERLANDS
  • Director of laboratory : Dr E.A. [Erik] SISTERMANS
  • More information
  • Phone : +31 (0)20 444 0747
  • Additional Phone : -
  • Fax : +31 (0)20 444 0744
  • Website
  • Contact
Last update: July 2019

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (20)

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.