Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories.
Ferlini
Alessandra
A
Ravani
Anna
A
Venturoli
Anna
A
Trabanelli
Cecilia
C
Masieri
Marina Taddei
MT
Brandi
Alessandra
A
Dolcini
Bernardetta
B
Rimessi
Paola
P
Gualandi
Francesca
F
Calzolari
Elisa
E
D000483:Alleles; D005260:Female; D006801:Humans; D007753:Laboratories; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011933:Reagent Kits, Diagnostic; D015203:Reproducibility of Results; D017086:beta-Thalassemia / Q000175:diagnosis*
D011933:Reagent Kits, Diagnostic