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Analytes
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Disease
Laboratory
Pancreatitis, idiopathic or hereditary (7 genes)
CFTR
,
SPINK1
,
PRSS1
,
CTRC
,
CASR
,
CLDN2
,
CPA1
Pancreatitis (7 genes) - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Cystic Fibrosis, newborn screening (12 hot spot mutations; CFTR)
CFTR
Cystic fibrosis
Centre de Génétique Humaine - Erasme ULB
Vascular mineralisation
ANKH
,
NT5E
,
ENPP1
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
Alport autosomal recessive and X-linked and hematuria (3 genes)
COL4A3
,
COL4A4
,
COL4A5
Alport (X-linked and recessive) (3 genes) - IPG
Autosomal recessive Alport syndrome
,
X-linked Alport syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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