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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
Dentatorubral pallidoluysian atrophy (DRPLA) - CAG repeat expansion
ATN1
Dentatorubral pallidoluysian atrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Dentatorubral pallidoluysian atrophy (DRPLA) - CAG repeat expansion
ATN1
Dentatorubral pallidoluysian atrophy
Centrum Medische Genetica - UZ Antwerpen
Dentatorubral pallidoluysian atrophy - ATN1 gene CAG repeat expansion
ATN1
Dentatorubral pallidoluysian atrophy
Centrum Medische Genetica - UZ Brussel VUB
Spinocerebellar ataxia (type 8, 17) + Dentatorubral pallidoluysian atrophy - repeat expansion
ATXN8
,
TBP
,
ATN1
Spinocerebellar ataxia (type 8, 17 + ATN1) (5 genes) - VUB
Spinocerebellar ataxia type 8
,
Spinocerebellar ataxia type 17
,
Dentatorubral pallidoluysian atrophy
Centrum Medische Genetica - UZ Brussel VUB
Azoo-oligospermia (microdeletion of 3' regions of Y chromosome AZF a, b and c)
Yq11
Partial chromosome Y deletion
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c )
Yq11
Partial chromosome Y deletion
Centre de Génétique Médicale UCL
Male infertility
Yq11
,
CFTR
,
USP9Y
Partial chromosome Y deletion
,
Congenital bilateral absence of vas deferens
Centre de Génétique Médicale UCL
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c )
Yq11
Partial chromosome Y deletion
Centrum Medische Genetica - UZ Gent
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c )
Yq11
Partial chromosome Y deletion
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c)
Yq11
Partial chromosome Y deletion
Centrum Medische Genetica - UZ Antwerpen
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c)
Yq11
Partial chromosome Y deletion
Centrum Menselijke Erfelijkheid - KUL
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c)
Yq11
Partial chromosome Y deletion
Centre de Génétique Humaine - Erasme ULB
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c)
Yq11
Partial chromosome Y deletion
Centrum Medische Genetica - UZ Brussel VUB
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c)
Yq11
Partial chromosome Y deletion
Centre de Génétique Humaine - CHU Sart-Tilman
Long QT syndrome
Long QT syndrome - UGent
Brugada syndrome
,
Romano-Ward syndrome
,
Familial atrial fibrillation
Centrum Medische Genetica - UZ Gent
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