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Friedreich ataxia - GAA repeat expansion
FXN
Friedreich ataxia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Friedreich ataxia - GAA repeat expansion
FXN
Friedreich ataxia
Centre de Génétique Humaine - CHU Sart-Tilman
Friedreich ataxia - GAA repeat expansion
FXN
Friedreich ataxia
Centrum Menselijke Erfelijkheid - KUL
Primary Electrical disorders / Brugada syndrome / Long QT syndrome (LQT) / Short QT syndrome (SQT) / Arrhythmogenic right ventricular cardiomyopathy (ARVC) / Catecholaminergic polymorphic ventricular tachycardia (CPVT) (gene panel)
ABCB4
,
ABCC9
,
ACTN2
,
AKAP9
,
ANK2
,
CACNA1C
,
CACNB2
,
CALM1
,
CALM2
,
CALM3
,
CASQ2
,
CAV3
,
CTNNA3
,
DES
,
DPP6
,
DSC2
,
DSG2
,
DSP
,
GJA1
,
GJA5
,
GPD1L
,
HCN4
,
JUP
,
KCNA5
,
KCND3
,
KCNE1
,
KCNE2
,
KCNE3
,
KCNE5
,
KCNH2
,
KCNJ2
,
KCNJ5
,
KCNJ8
,
KCNQ1
,
LMNA
,
NKX2-5
,
NOS1AP
,
NPPA
,
PKP2
,
PLN
,
PRKAG2
,
RANGRF
,
RYR2
,
SCN1B
,
SCN2B
,
SCN3B
,
SCN4B
,
SCN5A
,
SCN10A
,
SLMAP
,
SNTA1
,
TGFB3
,
TMEM43
,
TRDN
,
TRPM4
,
CACNA2D1
,
KCNK17
,
RRAD
,
PPA2
,
GNB5
Primary Electrical disorders/Brugada syndrome (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Bile Acid Primary Malabsorption
SLC10A2
Bile acid primary malabsorption
Centre de Génétique Médicale UCL
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes
Chromosome 21
,
Chromosome 13
,
Chromosome 18
Down syndrome
,
Trisomy 13
,
Trisomy 18
Centrum Menselijke Erfelijkheid - KUL
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes
Chromosome 21
,
Chromosome 13
,
Chromosome 18
Down syndrome
,
Trisomy 13
,
Trisomy 18
Centrum Medische Genetica - UZ Gent
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes
Chromosome 21
,
Chromosome 13
,
Chromosome 18
Down syndrome
,
Trisomy 13
,
Trisomy 18
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes
Chromosome 21
,
Chromosome 13
,
Chromosome 18
Centrum Medische Genetica - UZ Brussel VUB
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