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Wilson disease (most common variants of ATP7B gene)
Gene: ATP7B (c.3207C>A,c.1340_1343del4,c.3402delC,c.2337G>A,c.2332C>G)
Cystic fibrosis (F508del)
Gene: CFTR (F508del)
FISH analysis - Endometrial stromal tumor
Gene: PHF1 (6p21.32)
FISH analysis - Endometrial stromal sarcoma, high-grade
Gene: YWHAE (17p13.3)
FISH analysis - Endometrial stromal sarcoma, low-grade
Gene: JAZF1 (7p15.1-p15.2)
Peutz-Jeghers syndrome
Gene: STK11
Peutz-Jeghers syndrome
Gene: STK11_MLPA
MUTYH-related polyposis
Gene: MutYh
MUTYH-related polyposis
Gene: MutYh_MLPA
Lynch syndrome, type 8
Gene: EPCAM_MLPA
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