Orphanet: Simple search
x

Search for a diagnostic test

* (*) mandatory field

1 Result(s)

Diagnostic test(s) performed in the laboratory (1)

GERMANY

Baden-Württemberg
FREIBURG

Diagnosis of Blackfan-Diamond anemia (RPS19 gene)
Zentrum für Kinder- und Jugendmedizin Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing