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Laboratory
Periodic paralysis (myotonia) / Paramyotonia congenita (SCN4A gene)
SCN4A
Hyperkalemic periodic paralysis
,
Hypokalemic periodic paralysis
Centrum Medische Genetica - UZ Brussel VUB
Hypokalemic periodic paralysis, type 1 (CACNA1S gene hot spot mutations)
CACNA1S
Hypokalemic periodic paralysis
Centrum Medische Genetica - UZ Brussel VUB
Malignant hypertermia
RYR1
,
CACNA1S
Malignant hyperthermia of anesthesia
Centrum Medische Genetica - UZ Gent
Treacher Collins (gene panel)
POLR1C
,
POLR1D
,
TCOF1
Treacher Collins (3 genes) - UZA
Treacher-Collins syndrome
Centrum Medische Genetica - UZ Antwerpen
Vascular mineralisation
ANKH
,
NT5E
,
ENPP1
Centrum Medische Genetica - UZ Gent
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