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Analytes
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Disease
Laboratory
Myoclonic epilepsy associated with ragged-red fibers (MERFF) (hot spot mutation - m.8344A>G)
MT-TK
MERRF
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Myoclonic epilepsy associated with ragged-red fibers (MERFF) (hot spot mutation - m.8344A>G) (1st tier)
MT-TK
MERRF
Centrum Medische Genetica - UZ Brussel VUB
Myoclonic epilepsy associated with ragged-red fibers (MERFF) (full sequencing) (2nd tier)
MT-TK
MERRF
Centrum Medische Genetica - UZ Brussel VUB
Coagulopathies (2 genes)
ITGA2B
,
ITGB3
Autosomal dominant macrothrombocytopenia
,
Glanzmann thrombasthenia
,
Fetal and neonatal alloimmune thrombocytopenia
Centre de Génétique Médicale UCL
Gaucher disease diagnostic (GBA gene sequencing)
GBA1
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher disease
Centrum Medische Genetica - UZ Brussel VUB
Gaucher disease diagnostic (GBA gene hot spot mutations - p.Asn409Ser; p.Leu483Pro; c.84dupG; c.115+1G>A; )
GBA1
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher disease
Centrum Medische Genetica - UZ Brussel VUB
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
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