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Analytes
Gene panels
Disease
Laboratory
Alpha-1-antitrypsin deficiency (2 hot sopt mutations / p.Glu366Lys; p.Glu288Val )
SERPINA1
Alpha-1-antitrypsin deficiency
Centrum Menselijke Erfelijkheid - KUL
Alpha-1-antitrypsin deficiency (hot spot mutations - p.Glu342Lys (allele PI-Z), p. Glu264Val (allele PI-S))
SERPINA1
Alpha-1-antitrypsin deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Familial Exudative Vitreoretinopathy, autosomal dominant
FZD4
,
TSPAN12
,
LRP5
,
NDP
Exudative Vitreoretinopathy - UGent
Familial exudative vitreoretinopathy
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
Obesity (gene panel)
ADCY3
,
BDNF
,
LEP
,
LEPR
,
MC3R
,
MC4R
,
NR0B2
,
NTRK2
,
PCSK1
,
POMC
,
SIM1
,
UCP3
Obesitas (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Obesitas, early onset (gene panel)
MC4R
,
MC3R
,
LEP
,
LEPR
,
PCSK1
,
POMC
,
SIM1
,
NTRK2
Obesitas, early onset (8 genes) - VUB
Centrum Medische Genetica - UZ Brussel VUB
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