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Analytes
Gene panels
Disease
Laboratory
Nephrotic syndrome, Focal Segmental Glomerulosclerosis (FSGS) , Alport syndrome and podocytopathy (gene panel)
Nephrotic syndrome, FSGS, Alport syndrome (76 genes) - IPG
Alport syndrome
,
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
,
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
,
Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Treacher Collins (gene panel)
POLR1C
,
POLR1D
,
TCOF1
Treacher Collins (3 genes) - UZA
Treacher-Collins syndrome
Centrum Medische Genetica - UZ Antwerpen
Brain malformations (gene panel)
Brain malformations (34 genes) - ULB
Septopreoptic holoprosencephaly
,
Semilobar holoprosencephaly
,
Pituitary stalk interruption syndrome
,
Midline interhemispheric variant of holoprosencephaly
,
Lobar holoprosencephaly
,
Alobar holoprosencephaly
,
Encephalocraniocutaneous lipomatosis
,
Hartsfield syndrome
,
Non-syndromic metopic craniosynostosis
,
Pfeiffer syndrome type 1
,
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
,
Combined pituitary hormone deficiencies, genetic forms
,
Situs ambiguus
,
Situs inversus totalis
,
Gorlin syndrome
,
Schilbach-Rott syndrome
,
Triphalangeal thumb-polysyndactyly syndrome
,
Acquired schizencephaly
,
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
,
Radial hemimelia
,
Polydactyly of a triphalangeal thumb
,
Syndactyly type 4
,
Acrocallosal syndrome
,
Desmoplastic/nodular medulloblastoma
,
Familial multiple meningioma
,
Meningioma
,
Congenital non-communicating hydrocephalus
,
MASA syndrome
,
X-linked complicated corpus callosum dysgenesis
,
X-linked complicated spastic paraplegia type 1
,
Congenital communicating hydrocephalus
Centre de Génétique Humaine - Erasme ULB
Cystic Fibrosis / related disorders (50 hot spot mutations)
CFTR
Cystic fibrosis
,
Idiopathic bronchiectasis
,
Hereditary chronic pancreatitis
,
Congenital bilateral absence of vas deferens
Centre de Génétique Médicale UCL
Male infertility
Yq11
,
CFTR
,
USP9Y
Partial chromosome Y deletion
,
Congenital bilateral absence of vas deferens
Centre de Génétique Médicale UCL
Cystic Fibrosis / Congenital bilateral absence of vas deferens (CBAVD) / Idiopathic pancreatitis (50 recurrent mutations)
CFTR
Cystic fibrosis
,
Congenital bilateral absence of vas deferens
,
Hereditary chronic pancreatitis
,
Idiopathic bronchiectasis
Centrum Medische Genetica - UZ Gent
Cystic Fibrosis / related disorders (50 hot spot mutations)
CFTR
Cystic fibrosis
,
Hereditary chronic pancreatitis
,
Congenital bilateral absence of vas deferens
,
Idiopathic bronchiectasis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Cystic Fibrosis / Congenital absence of the vas deferens / CFTR-related disorders (50 hot spot mutations)
CFTR
Cystic fibrosis
,
Congenital bilateral absence of vas deferens
,
Idiopathic pulmonary fibrosis
,
Hereditary chronic pancreatitis
Centrum Medische Genetica - UZ Antwerpen
Cystic Fibrosis / Congenital absence of the vas deferens / CFTR-related disorders (Sequencing CFTR gene)
CFTR
Cystic fibrosis
,
Congenital bilateral absence of vas deferens
,
Hereditary chronic pancreatitis
,
Idiopathic bronchiectasis
Centrum Medische Genetica - UZ Antwerpen
Cystic Fibrosis / Congenital absence of the vas deferens / CFTR-related disorders (88 hot spot mutations)
CFTR
Cystic fibrosis
,
Hereditary chronic pancreatitis
,
Congenital bilateral absence of vas deferens
,
Idiopathic bronchiectasis
Centre de Génétique Humaine - Erasme ULB
Cystic Fibrosis / related disorders (CFTR gene 88 hot spot mutations / newborn screening 12 hot spot mutations)
CFTR
Cystic fibrosis
,
Congenital bilateral absence of vas deferens
Centrum Medische Genetica - UZ Brussel VUB
Cystic Fibrosis / Congenital absence of the vas deferens / related disorders (50 hot spot mutations)
CFTR
Cystic fibrosis
,
Congenital bilateral absence of vas deferens
,
Hereditary chronic pancreatitis
,
Idiopathic bronchiectasis
Centrum Menselijke Erfelijkheid - KUL
Vas deferens, congenital bilateral aplasia of, X-linked (ADGRG2 gene)
ADGRG2
Congenital bilateral absence of vas deferens
Centrum Medische Genetica - UZ Brussel VUB
Cystic Fibrosis / related disorders (50 hot spot mutations)
CFTR
Cystic fibrosis
,
Congenital bilateral absence of vas deferens
,
Idiopathic bronchiectasis
,
Hereditary chronic pancreatitis
Centre de Génétique Humaine - CHU Sart-Tilman
Cystic Fibrosis / related disorder (Full sequencing)
CFTR
Cystic fibrosis
,
Congenital bilateral absence of vas deferens
,
Hereditary chronic pancreatitis
,
Idiopathic bronchiectasis
Centre de Génétique Humaine - CHU Sart-Tilman
Cystic Fibrosis / related disorders
CFTR
Cystic fibrosis
,
Idiopathic bronchiectasis
,
Hereditary chronic pancreatitis
,
Congenital bilateral absence of vas deferens
Centre de Génétique Médicale UCL
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