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Analytes
Gene panels
Disease
Laboratory
Paraganglioma-pheochromocytoma (gene panel)
SDHA
,
SDHB
,
SDHC
,
SDHD
,
SDHAF2
,
RET
,
VHL
,
NF1
Paraganglioma-pheochromocytoma (7 genes) - KUL
Hereditary pheochromocytoma-paraganglioma
Centrum Menselijke Erfelijkheid - KUL
Von Hippel Lindau
VHL
Von Hippel-Lindau disease
Centrum Menselijke Erfelijkheid - KUL
Pheochromocytoma - paraganglioma syndrome (gene panel)
SDHB
,
SDHC
,
SDHD
,
SDHA
,
MAX
,
TMEM127
,
SDHAF2
,
VHL
,
RET
,
SUCLG2
Pheochromocytoma - paraganglioma syndrome - UGent
Hereditary pheochromocytoma-paraganglioma
Centrum Medische Genetica - UZ Gent
Von Hippel Lindau syndrome
VHL
Von Hippel-Lindau disease
Centrum Medische Genetica - UZ Gent
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
Renal carcinoma (4 genes)
MET
,
FH
,
FLCN
,
VHL
Renal carcinoma (4 genes) - UCL
Clear cell renal carcinoma
Centre de Génétique Médicale UCL
Von Hippel Lindau disease
VHL
Von Hippel-Lindau disease
Centre de Génétique Médicale UCL
Parathyroid tumor (gene panel)
CASR
,
CDC73
,
MEN1
,
RET
Parathyroid tumor (4 genes) - KUL
Neonatal severe primary hyperparathyroidism
,
Familial hypocalciuric hypercalcemia type 1
,
Autosomal dominant hypocalcemia
Centrum Menselijke Erfelijkheid - KUL
Hyperparathyroidism (gene panel)
AIP
,
MEN1
,
CDKN1B
,
PRKAR1A
,
RET
Familial isolated hyperparathyroidism
Centre de Génétique Humaine - CHU Sart-Tilman
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
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
Pituitary adenoma (5 genes)
AIP
,
CDKN1B
,
MEN1
,
RET
,
PRKAR1A
Pituitary adenoma (5 genes) - UCL
Familial isolated pituitary adenoma
,
Silent pituitary adenoma
,
Null pituitary adenoma
,
Prolactinoma
,
Pituitary gigantism
,
Acromegaly
Centre de Génétique Médicale UCL
Medullary thyroid carcinoma
RET
Medullary thyroid carcinoma (3 genes) - UCL
Familial medullary thyroid carcinoma
Centre de Génétique Médicale UCL
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
Hirschsprung disease
RET
Hirschsprung disease
Centrum Menselijke Erfelijkheid - KUL
Hirschsprung disease
RET
Hirschsprung disease
Centre de Génétique Médicale UCL
Beta-globin hemoglobinopathies, phenotype modifiers (hot spot mutations - rs7482144 (Xmn1) at promoter 158 bp 5′ upstream of HBG2 / 32C-T in the 5' UTR of the HBS1L)
BCL11A
,
HBG2
,
HBS1L
Beta-globin hemoglobinopathies, phenotype modifiers ( 3 genes) - ULB
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
,
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
,
Hemoglobinopathy Toms River
Centre de Génétique Humaine - Erasme ULB
Kabuki syndrome (gene panel)
KMT2D
,
KDM6A
,
KMT2A
,
HNRNPK
,
RAP1A
,
RAP1B
,
PACS1
Kabuki (7 genes) - IPG
Kabuki syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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