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Analytes
Gene panels
Disease
Laboratory
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
Paraganglioma-pheochromocytoma (gene panel)
SDHA
,
SDHB
,
SDHC
,
SDHD
,
SDHAF2
,
RET
,
VHL
,
NF1
Paraganglioma-pheochromocytoma (7 genes) - KUL
Hereditary pheochromocytoma-paraganglioma
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
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
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
Hemochromatosis hereditary type 2 to type 5 (5 genes)
HAMP
,
FTH1
,
SLC40A1
,
TFR2
,
HJV
Hemochromatosis hereditary (types 2 to 5) (5 genes) - UCL
HJV or HAMP-related hemochromatosis
,
TFR2-related hemochromatosis
,
Hemochromatosis type 4
,
Hemochromatosis type 5
Centre de Génétique Médicale UCL
Cholestasis (gene panel)
ABCB11
,
ABCB4
,
AKR1D1
,
AMACR
,
ATP8B1
,
BAAT
,
BCS1L
,
CC2D2A
,
CLDN1
,
CYP27A1
,
CYP7B1
,
DCDC2
,
DGUOK
,
HNF1B
,
HSD3B7
,
INVS
,
JAG1
,
MKS1
,
MPV17
,
NOTCH2
,
NPC1
,
NPC2
,
NPHP1
,
NPHP3
,
NPHP4
,
NR1H4
,
PKHD1
,
PNPLA3
,
POLG
,
SLC25A13
,
SMPD1
,
TJP2
,
TALDO1
,
TMC4
,
TMEM216
,
TM6SF2
,
TRMU
,
UGT1A1
,
VIPAS39
,
VPS33B
Cholestasis (40 genes) - UCL
Progressive familial intrahepatic cholestasis type 2
,
Benign recurrent intrahepatic cholestasis type 2
,
Progressive familial intrahepatic cholestasis type 3
,
Intrahepatic cholestasis of pregnancy
,
Congenital bile acid synthesis defect type 2
,
Congenital bile acid synthesis defect type 4
,
Progressive familial intrahepatic cholestasis type 1
,
Familial hypercholanemia
,
GRACILE syndrome
,
Isolated complex III deficiency
,
Meckel syndrome
,
Joubert syndrome
,
Congenital bile acid synthesis defect type 3
,
Isolated neonatal sclerosing cholangitis
,
Neonatal ichthyosis-sclerosing cholangitis syndrome
,
Infantile nephronophthisis
,
HNF1B-related autosomal dominant tubulointerstitial kidney disease
,
Congenital bile acid synthesis defect type 1
,
Alagille syndrome due to a JAG1 point mutation
,
Bardet-Biedl syndrome
,
Alagille syndrome due to a NOTCH2 point mutation
,
Niemann-Pick disease type C, severe perinatal form
,
Niemann-Pick disease type C, late infantile neurologic onset
,
Niemann-Pick disease type C, severe early infantile neurologic onset
,
Niemann-Pick disease type C, adult neurologic onset
,
Niemann-Pick disease type C, juvenile neurologic onset
,
Senior-Loken syndrome
,
Renal-hepatic-pancreatic dysplasia
,
Progressive familial intrahepatic cholestasis type 5
,
Autosomal recessive polycystic kidney disease
,
Caroli disease
,
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
,
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
,
Citrullinemia type II
,
Chronic visceral acid sphingomyelinase deficiency
,
Infantile neurovisceral acid sphingomyelinase deficiency
,
Progressive familial intrahepatic cholestasis type 4
,
Transaldolase deficiency
,
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
,
Crigler-Najjar syndrome type 1
,
Crigler-Najjar syndrome type 2
,
Arthrogryposis, renal dysfunction, and cholestasis
,
Cerebrotendinous xanthomatosis
Centre de Génétique Médicale UCL
Hepatorenal disorders (gene panel)
BCS1L
,
CC2D2A
,
DCDC2
,
EHHADH
,
HNF1B
,
INVS
,
MKS1
,
NPHP1
,
NPHP3
,
NPHP4
,
PKHD1
,
POLG
,
TMEM216
Hepatorenal disorders (13 genes) - UCL
GRACILE syndrome
,
Mitochondrial DNA-associated Leigh syndrome
,
Isolated complex III deficiency
,
Joubert syndrome
,
Meckel syndrome
,
Isolated neonatal sclerosing cholangitis
,
Primary Fanconi renotubular syndrome
,
HNF1B-related autosomal dominant tubulointerstitial kidney disease
,
Infantile nephronophthisis
,
Bardet-Biedl syndrome
,
Senior-Loken syndrome
,
Autosomal recessive polycystic kidney disease
Centre de Génétique Médicale UCL
Spinocerebellar ataxia (SCA) types 8, 10, 12, 17 - repeat expansion
ATXN8
,
ATXN10
,
PPP2R2B
,
TBP
Spinocerebellar ataxia (type 8, 10, 12, 17) (4 genes) - UZA
Spinocerebellar ataxia type 8
,
Spinocerebellar ataxia type 10
,
Spinocerebellar ataxia type 12
,
Spinocerebellar ataxia type 17
Centrum Medische Genetica - UZ Antwerpen
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