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Study of the Sterile Couple

Q1100P, M1101K, 1812-1G>A, 1609delCA, 1898+3A>G, R709X, V232D, S549R(T>G), L206W, P205S, H199Y, 712-1G>T, 2869insG, 1811+1,6kbA>G, Q890X, 3120+1G>A, 711+1G>T,CFTRdele2,3(21Kb), 1717-1G>A, 3849+10kbC>T, 2789+5G>A, 1898+1G>A, G542X, G85E,Y1092X(C>A), G551D, R553X, 3659delC, N1303K, R560T, R117H(350G>A), R1162X, L1077P, R1066C, L1065P, W1282X, R347H, T338l, I507del, F508del, I336K, 1677delTA, R334W, 3272-26A>G, 1078delT, 2183AA>G, 2184insA, 2143delT,5T(TGn), 7T, 9T,621+1G>T, R117C(349C>T), R347P

Fragile X Screening in the premature ovarian failure

Factor V Leiden c.1691G>A (p.R506Q), Factor II g.20210G>A, FGG c.10034C>T, Factor XI c.56-282T>C (rs2036914), PROCR c.323-207G>A (rs2069951), SEPINC1 c.41+141G>A (rs2227589), GP6 c.655C>T (p.P219S) (rs1613662), PAI-1 Alelos -844A>G y -675 4G/5G, MTHFR c.677C>T (p.A222V) y c.1298A>C (p.E429A), Factor XII c.-4C>T (C46T)

Conventional Karyotype

Sperm FISH (study of chromosomes 13, 18, 21, 21, X and Y)

Sperm DNA Fragmentation Test (Halosperm®)

Sperm FISH + DNA Fragmentation (Halosperm®)

Study of the Y Chromosome Microdeletions  (AZFa, AZFb and AZF)

Q1100P, M1101K, 1812-1G>A, 1609delCA, 1898+3A>G, R709X, V232D, S549R(T>G), L206W, P205S, H199Y, 712-1G>T, 2869insG, 1811+1,6kbA>G, Q890X, 3120+1G>A, 711+1G>T,CFTRdele2,3(21Kb), 1717-1G>A, 3849+10kbC>T, 2789+5G>A, 1898+1G>A, G542X, G85E,Y1092X(C>A), G551D, R553X, 3659delC, N1303K, R560T, R117H(350G>A), R1162X, L1077P, R1066C, L1065P, W1282X, R347H, T338l, I507del, F508del, I336K, 1677delTA, R334W, 3272-26A>G, 1078delT, 2183AA>G, 2184insA, 2143delT,5T(TGn), 7T, 9T,621+1G>T, R117C(349C>T), R347P

Conventional Karyotype

Viral determinations

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