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Gene panels
Disease
Laboratory
Microsatellite instability analysis
Hereditary nonpolyposis colorectal cancer
,
Lynch syndrome
Centrum Medische Genetica - UZ Gent
Multiple endocrine neoplasia, type 1 and 4
MEN1
,
CDKN1B
,
AIP
Multiple endocrine neoplasia type 1
,
Multiple endocrine neoplasia type 4
Centrum Medische Genetica - UZ Gent
Steinert myotonic dystrophy - CTG repeat expansion
DMPK
Steinert myotonic dystrophy
Centrum Medische Genetica - UZ Gent
Neurofibromatosis type 1 / Legius syndrome
NF1
,
SPRED1
Neurofibromatosis type 1
,
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
,
17q11 microdeletion syndrome
,
Legius syndrome
Centrum Medische Genetica - UZ Gent
Neuromuscular disorders (gene panel)
Neuromuscular disorders - UGent
Centrum Medische Genetica - UZ Gent
Nijmegen breakage syndrome
NBN
Nijmegen breakage syndrome
Centrum Medische Genetica - UZ Gent
Ocular albinism and oculocutaneous albinism type 1, 2, 3, 4, 6, 7, 8 (gene panel)
TYR
,
OCA2
,
TYRP1
,
SLC45A2
,
SLC24A5
,
LRMDA
,
GPR143
Ocular and oculocutaneous albinism - UGent
Oculocutaneous albinism type 1A
,
Oculocutaneous albinism type 1B
,
Oculocutaneous albinism type 2
,
Oculocutaneous albinism type 3
,
Oculocutaneous albinism type 4
,
Oculocutaneous albinism type 6
,
Oculocutaneous albinism type 7
Centrum Medische Genetica - UZ Gent
Somatic analysis of the BRCA genes in the context of ovarian cancer treatment (2 genes)
BRCA1
,
BRCA2
Centrum Medische Genetica - UZ Gent
Pancreatitis, hereditary (2 genes)
PRSS1
,
SPINK1
Hereditary chronic pancreatitis
Centrum Medische Genetica - UZ Gent
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
Porencephaly / Hemorrhagic stroke / Cerebral small vessel disease / Idiopathic cerebral white matter lesions / HANAC / Isolated retinal arteriolar tortuosity
COL4A1
,
COL4A2
Familial porencephaly
,
HANAC syndrome
,
Retinal arterial tortuosity
Centrum Medische Genetica - UZ Gent
Prostate cancer (gene panel)
Prostate cancer - UGent
Familial prostate cancer
Centrum Medische Genetica - UZ Gent
Protein S deficiency
PROS1
Severe hereditary thrombophilia due to congenital protein S deficiency
Centrum Medische Genetica - UZ Gent
Retinal dystrophy / RETNET (gene panel)
Retinal dystrophy - UGent
Centrum Medische Genetica - UZ Gent
Retinitis pigmentosa, X-Linked
Retinitis pigmentosa, X-linked - UGent
Centrum Medische Genetica - UZ Gent
Skin disorders (gene panel)
Skin disorders - UGent
Centrum Medische Genetica - UZ Gent
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
SMN1
,
SMN2
Proximal spinal muscular atrophy type 1
,
Proximal spinal muscular atrophy type 2
,
Proximal spinal muscular atrophy type 3
,
Proximal spinal muscular atrophy type 4
Centrum Medische Genetica - UZ Gent
Spondylo-epiphyseal dysplasia
NKX3-2
,
COL2A1
Centrum Medische Genetica - UZ Gent
Stargardt disease
ABCA4
Stargardt disease
Centrum Medische Genetica - UZ Gent
Stickler syndrome (gene panel)
Stickler syndrome - UGent
Stickler syndrome type 1
,
Stickler syndrome type 2
,
Autosomal dominant otospondylomegaepiphyseal dysplasia
Centrum Medische Genetica - UZ Gent
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