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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
Peutz-Jeghers Syndrome
STK11
Peutz-Jeghers syndrome
Centre de Génétique Médicale UCL
Peutz-Jeghers Syndrome (STK11 gene)
STK11
Peutz-Jeghers syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Amyotrophic lateral sclerosis (GGGGCC repeat expansion in the C9ORF72 gene)
C9ORF72
Amyotrophic lateral sclerosis
,
Frontotemporal dementia with motor neuron disease
,
Behavioral variant of frontotemporal dementia
,
Huntington disease-like syndrome due to C9ORF72 expansions
Centrum Menselijke Erfelijkheid - KUL
Cholelithiasis, Low Phospholipid associated (LPAC syndrome)
ABCB4
Low phospholipid-associated cholelithiasis
Centre de Génétique Médicale UCL
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