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Analytes
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Laboratory
Periodic paralysis (myotonia) / Paramyotonia congenita (SCN4A gene)
SCN4A
Hyperkalemic periodic paralysis
,
Hypokalemic periodic paralysis
Centrum Medische Genetica - UZ Brussel VUB
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
Ectopia lentis
LTBP2
,
ADAMTSL4
,
FBN1
Isolated ectopia lentis
Centrum Medische Genetica - UZ Gent
Microspherophakia / Megalocornea / primary congenital Glaucoma / Weill-Marchesani syndrome 3 recessive type
LTBP2
Weill-Marchesani syndrome
,
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Centrum Medische Genetica - UZ Gent
Hereditary angioneurotic edema (2 genes)
F12
,
SERPING1
C1 inhibitor deficiency
,
Hereditary angioedema type 1
,
Hereditary angioedema type 2
Centre de Génétique Médicale UCL
Hereditary Angioedema (7 genes)
PLG
,
F12
,
SERPING1
,
ANGPT1
,
KNG1
Angioedema (7 genes) - IPG
F12-related hereditary angioedema with normal C1Inh
,
Hereditary angioedema type 1
,
Hereditary angioedema type 2
,
PLG-related hereditary angioedema with normal C1Inh
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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