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Analytes
Gene panels
Disease
Laboratory
Periodic paralysis (myotonia) / Paramyotonia congenita (SCN4A gene)
SCN4A
Hyperkalemic periodic paralysis
,
Hypokalemic periodic paralysis
Centrum Medische Genetica - UZ Brussel VUB
Capillary malformation - arteriovenous malformation (2 genes)
RASA1
,
EPHB4
Capillary/arteriovenous malformation (2 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Capillary malformation-arteriovenous malformation
,
Vein of Galen aneurysmal malformation
,
Parkes Weber syndrome
Centre de Génétique Médicale UCL
Vascular malformations (somatic)
AKT1
,
AKT2
,
AKT3
,
ALK
,
BRAF
,
GNA11
,
GNA14
,
GNAQ
,
HRAS
,
IDH1
,
IDH2
,
KRAS
,
NRAS
,
PIK3CA
,
PIK3R1
,
PIK3R2
,
PTEN
,
TEK
,
MAP3K3
,
MAP2K1
Vascular malformations (somatic) (19 genes) - UCL
Capillary malformation-arteriovenous malformation
,
CLOVES syndrome
,
Maffucci syndrome
,
Proteus syndrome
Centre de Génétique Médicale UCL
Arteriovenous malformation (gene panel)
Arteriovenous malformation (7 genes)
,
Vascular malformations (germline) (38 genes) - UCL
Hereditary hemorrhagic telangiectasia
,
Heritable pulmonary arterial hypertension
,
Familial cerebral saccular aneurysm
,
Vein of Galen aneurysmal malformation
,
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
,
Capillary malformation-arteriovenous malformation
,
Parkes Weber syndrome
,
Microcephaly-capillary malformation syndrome
Centre de Génétique Médicale UCL
Buschke-Ollendorff / Melorheostosis with Osteopoikilosis
LEMD3
Buschke-Ollendorff syndrome
,
Melorheostosis with osteopoikilosis
,
Isolated osteopoikilosis
Centrum Medische Genetica - UZ Gent
Hyperthyroidism ( familial gestational or familial nonautoimmune, hypothyroidism, thyrotropin) - TSHR
TSHR
Familial hyperthyroidism due to mutations in TSH receptor
,
Hypothyroidism due to TSH receptor mutations
,
Familial gestational hyperthyroidism
Centre de Génétique Humaine - Erasme ULB
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