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Analytes
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Laboratory
Gorlin syndrome (gene panel)
PTCH1
,
PTCH2
,
SUFU
Gorlin syndrome (3 genes)
Gorlin syndrome
Centre de Génétique Médicale UCL
Medulloblastoma (gene panel)
SUFU
,
TP53
,
PTCH1
Medulloblastoma (3 genes) - KUL
Medulloblastoma
Centrum Menselijke Erfelijkheid - KUL
Medulloblastoma (3 genes)
PTCH1
,
PTCH2
,
SUFU
Medulloblastoma (3 genes) - UCL
Medulloblastoma
,
Gorlin syndrome
Centre de Génétique Médicale UCL
Hypokalemic periodic paralysis, type 1 (CACNA1S gene hot spot mutations)
CACNA1S
Hypokalemic periodic paralysis
Centrum Medische Genetica - UZ Brussel VUB
Malignant hypertermia
RYR1
,
CACNA1S
Malignant hyperthermia of anesthesia
Centrum Medische Genetica - UZ Gent
Carnitine Palmitoyltransferase type II
CPT2
Carnitine palmitoyl transferase II deficiency, myopathic form
,
Carnitine palmitoyl transferase II deficiency, severe infantile form
,
Carnitine palmitoyl transferase II deficiency, neonatal form
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Carnitine Palmitoyl transferase type II
CPT2
Carnitine palmitoyl transferase II deficiency, severe infantile form
,
Carnitine palmitoyl transferase II deficiency, neonatal form
,
Carnitine palmitoyl transferase II deficiency, myopathic form
Centrum Medische Genetica - UZ Antwerpen
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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