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Cystic fibrosis (F508del)
Gene: CFTR (F508del)
Metylentetrahydrofolat reductase (MTHFRI and MTHFRII)
Gene: MTHFR: 677C>T, 1298A>C
Testicular feminization syndrome
Gene: AR
Testicular feminization syndrome
Gene: AR_MLPA
Y chromosome microdeletions
Gene: AZF region deletions
Non-syndrome disorder of sex development in 46, XY, type 2
Gene: DAX1 (NR0B1)
Hypogonadotropic hypogonadism, type 5
Gene: CHD7
Hypogonadotropic hypogonadism, type 2
Gene: FGFR1
Hypogonadotropic hypogonadism, type 5
Gene: CHD7_MLPA
Hypogonadotropic hypogonadism, type 1, X-linked
Gene: ANOS1 (KAL1)_MLPA
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