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Thalassemia Alpha (2 genes)
HBA1
,
HBA2
Thalassemia Alpha (2 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
SLCO1B1*1b,*5,*15 genotyping (transport protein) - Pharmacogenetics
SLCO1B1
Statin toxicity
Centre de Génétique Médicale UCL
Non-cholestatic jaundice with direct bilirubin (3 genes)
ABCC2
,
SLCO1B1
,
SLCO1B3
Non-cholestatic jaundice with direct bilirubin (3 genes) - UCL
Rotor syndrome
,
Dubin-Johnson syndrome
Centre de Génétique Médicale UCL
X-linked creatine deficiency
SLC6A8
X-linked creatine transporter deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Beckwith-Wiedemann syndrome
11p15.5
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
,
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Centre de Génétique Médicale UCL
Silver-Russell syndrome
11p15.5
,
7p12.1
,
7q32.2
Silver-Russell syndrome
,
Silver-Russell syndrome due to an imprinting defect of 11p15
,
Silver-Russell syndrome due to 11p15 microduplication
Centre de Génétique Médicale UCL
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