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Laboratory
Non-cholestatic jaundice with direct bilirubin (3 genes)
ABCC2
,
SLCO1B1
,
SLCO1B3
Non-cholestatic jaundice with direct bilirubin (3 genes) - UCL
Rotor syndrome
,
Dubin-Johnson syndrome
Centre de Génétique Médicale UCL
Multiple endocrine neoplasia type 2A and 2B / Familial medullary thyroid carcinoma
RET
Multiple endocrine neoplasia type 2B
,
Multiple endocrine neoplasia type 2A
,
Familial medullary thyroid carcinoma
Centrum Menselijke Erfelijkheid - KUL
Multiple Endocrine Neoplasia type 2A and 2B / Familial medullary thyroid carcinoma
RET
Multiple endocrine neoplasia type 2A
,
Multiple endocrine neoplasia type 2B
,
Familial medullary thyroid carcinoma
Centre de Génétique Humaine - Erasme ULB
Paraganglioma-pheochromocytoma (6 genes) - ULG
RET
,
VHL
,
SDHA
,
SDHB
,
SDHC
,
SDHD
Paraganglioma-pheochromocytoma (6 genes) - ULG
Hereditary pheochromocytoma-paraganglioma
,
Von Hippel-Lindau disease
,
Multiple endocrine neoplasia type 2B
,
Multiple endocrine neoplasia type 2A
Centre de Génétique Humaine - CHU Sart-Tilman
Multiple Endocrine Neoplasia type 2A and 2B / Familial medullary thyroid carcinoma
RET
Multiple endocrine neoplasia type 2A
,
Multiple endocrine neoplasia type 2B
,
Familial medullary thyroid carcinoma
,
Hirschsprung disease
Centrum Medische Genetica - UZ Gent
Multiple endocrine neoplasia (3 genes)
CDKN1B
,
MEN1
,
RET
Multiple endocrine neoplasia (3 genes) - UCL
Multiple endocrine neoplasia type 1
,
Multiple endocrine neoplasia type 2B
,
Multiple endocrine neoplasia type 2A
,
Multiple endocrine neoplasia type 4
Centre de Génétique Médicale UCL
Stickler syndrome (gene panel)
COL2A1
,
COL11A1
,
COL9A1
,
COL9A2
Stickler syndrome (4 genes) - UZA
Stickler syndrome type 1
,
Stickler syndrome type 2
,
Autosomal recessive Stickler syndrome
Centrum Medische Genetica - UZ Antwerpen
Enzymatic dosage Pompe disease
Glycogen storage disease due to acid maltase deficiency
,
Glycogen storage disease due to acid maltase deficiency, infantile onset
,
Glycogen storage disease due to acid maltase deficiency, late-onset
Centrum Medische Genetica - UZ Brussel VUB
Pompe disease, Glycogen storage disease II (GAA gene)
GAA
Glycogen storage disease due to acid maltase deficiency, infantile onset
,
Glycogen storage disease due to acid maltase deficiency, late-onset
Centrum Medische Genetica - UZ Brussel VUB
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