Badania genetyczne

Analizowane loci w regionach AZF:
- AZFa: sY84, sY86, sY822, sY83, sY88, sY1065
- AZFb: sY127, sY134, sY105, sY1224, sY1192, sY 153
- AZFc: sY254, sY255, sY160, sY1191, sY1291
Analizowane loci kontrolne: SRY (sY14), ZFY/ZFX (sY238)

Polimorfizm 4G/5G

Mutacja V Leiden c.1601G>A (G1619A)

G20210A

Detekcja mutacji c.5266dupC (5382insC) w genie BRCA1
Detekcja mutacji c.181T>G (C61G) w genie BRCA1
Detekcja mutacji c.68_69delAG (185delAG) w genie BRCA1
Detekcja mutacji c.4035delA (4153delA) w genie BRCA1
Detekcja mutacji c.3700_3704delGTAAA (3819del5) w genie BRCA1

Detekcja mutacji c.6174delT

Detekcja mutacji dele2,3 i delF508

2184delA, delF507, 2789+5G A, delF508, 1898+1G A, V520F, 621+1G T, S549N, 711+1GT, S549R,G85E, R553X, R347P, G551D, R347H, 3876delA,W1282X,1717-1GA, R334W, G542X, 1078delT, R560T, 3849+10kbCT,3120+1G A, R1162X, A455E, N1303K, R117H, 3659delC, 394delTT, 3905insT, 2183AA >G, dele2,3(21kb)

Wszystkie warianty

Protrombina F2 c.*97G>A (G20210A),

Proakceleryna F5 c.1601G>A (p.Arg534Gln), c.3980A>G (p.His1327Arg), c.5189A>G
(p.Tyr1730Cys),

MTHFR polimorfizmy A1298C i C677T,

BRCA1 c.5266dupC (5382insC), c.181T>G (C61G), c.68_69delAG
(185delAG), c.4035delA (4153delA), c.3700_3704delGTAAA (3819del5),

BRCA2 c.6174delT

BRCA1 c.5266dupC (5382insC), c.181T>G (C61G), c.68_69delAG (185delAG), c.4035delA (4153delA), c.3700_3704delGTAAA (3819del5),

BRCA2 c.6174delT,

CHEK2 c.444+1G>A(IVS+1G>A), c.470C>T (I157T) i c.1100delC,

NOD2 c.3019dupC (3020insC)

BRCA1 c.5266dupC (5382insC), c.181T>G (C61G), c.68_69delAG (185delAG), c.4035delA (4153delA), c.3700_3704delGTAAA (3819del5), c.3756_3759delGTCT (3875del4), c.1687C>T (1806C>T),

BRCA2 c.6174delT,

CHEK2 c.444+1G>A(IVS+1G>A), c.470C>T (I157T), c.1100delC i c.908+1540_1095+330del5395),

NOD2 c.3019dupC (3020insC),

PALB2 c.509_510delGA i c.172_175delTTGT

Protrombina F2 c.*97G>A (G20210A),

Proakceleryna F5 c.1601G>A (p.Arg534Gln), c.3980A>G (p.His1327Arg), c.5189A>G
(p.Tyr1730Cys),

MTHFR polimorfizmy A1298C i C677T,

SERPINE1 (PAI-1)  polimorfizm 4G/5G

CFTR (delF508; del2,3),

SMN1 (delecja eksonu 7),

FMR1 (mutacja dynamiczna (CGG)n - badanie przesiewowe),

GJB2 (c.35delG, c.35G>T,c.35G>A),

PAH (c.1222C>T ),

HADHA (c.1528G>C),

ACADM (c.985A>G),

DHCR7 (c.452G>A; c.452G>C; c.976G>T),

NBN (c.657_661del5),

SCO2 (c.418G>A),

SURF1 (c.312_321del10insAT; c.845_846delCT)

CFTR (delF508; del2,3),

SMN1 (delecja eksonu 7),

FMR1 (mutacja dynamiczna (CGG)n - badanie przesiewowe)

CHEK2: 1100delC, IVS2+1G>A, del5395 i I157T

NBS1/NBN: 657del5

HOXB13: G84E,

Polimorfizm rs188140481 A/T

HOXB13: c.251G>A; p.(Gly84Glu)

rs188140481 A/T

NOD2: 3020insC

CHEK2: I157T

CDKN2A (P16): A148T

BRCA1: ekson 2: c.66_67insC; p.(Glu23Argfs*18), c.68_69delAG (185delAG); p.(Glu23Valfs*17) ekson 5: c.181T>G (300T>G); p.(Cys61Gly), c.190T>C (309T>C); p.(Cys64Arg), c.190T>G (309T>G); p.(Cys64Gly) ekson 11: c.3627dupA; p.(Glu1210Argfs*9), c.3700_3704delGTAAA (3819del5); p.(Val1234Glnfs*8), c.3748G>T (3867G>T); p.(Glu1250*), c.3756_3759delGTCT (3875del4); p.(Ser1253Argfs*10), c.3779delT (3896delT); p.(Leu1260Tyrfs*4), c.3817C>T (3936C>T); p.(Gln1273*), c.4035delA (4153delA); p.(Glu1346Lysfs*20), c. 4041_4042delAG (4160delAG); p.(Gly1348Asnfs*7) ekson 20: c.5232_5238delinsGTCCAAAGCGAG (5351del7ins12); p.(Asn1745Serfs*22), c.5251C>T (5370C>T); p.(Arg1751*), c.5266dupC (5382insC); p.(Gln1756Profs*74)

BRCA2: ekson 25: c.9371A>T; p.(Asn3124Ile), c.9376delC; p.(Gln3126Serfs*37), c.9403delC; p.(Leu3135Phefs*28)

CHEK2: c.444+1G>A (IVS2+1G-A); c.1100delC, p.(T367Mfs*15),wariant: c.470T>C, p.(Ile157Thr); NG_008150.1:g. 44869_50264del (del5395)

NBN: c.657_661delACAAA, p.(Lys219fs)

HOXB13: c.251G>A, (p.Gly84Glu)

BRCA1, BRCA2, HOXB13, CHEK2, NBN, CDKN2

BRCA1: ekson 2: c.66_67insC; p.(Glu23Argfs*18), c.68_69delAG (185delAG); p.(Glu23Valfs*17) ekson 5: c.181T>G (300T>G); p.(Cys61Gly), c.190T>C (309T>C); p.(Cys64Arg), c.190T>G (309T>G); p.(Cys64Gly) ekson 11: c.3627dupA; p.(Glu1210Argfs*9), c.3700_3704delGTAAA (3819del5); p.(Val1234Glnfs*8), c.3748G>T (3867G>T); p.(Glu1250*), c.3756_3759delGTCT (3875del4); p.(Ser1253Argfs*10), c.3779delT (3896delT); p.(Leu1260Tyrfs*4), c.3817C>T (3936C>T); p.(Gln1273*), c.4035delA (4153delA); p.(Glu1346Lysfs*20), c. 4041_4042delAG (4160delAG); p.(Gly1348Asnfs*7) ekson 20: c.5232_5238delinsGTCCAAAGCGAG (5351del7ins12); p.(Asn1745Serfs*22), c.5251C>T (5370C>T); p.(Arg1751*), c.5266dupC (5382insC); p.(Gln1756Profs*74)

BRCA2: ekson 25: c.9371A>T; p.(Asn3124Ile), c.9376delC; p.(Gln3126Serfs*37), c.9403delC; p.(Leu3135Phefs*28)

CHEK2: c.444+1G>A (IVS2+1G-A); c.1100delC, p.(Thr367Metfs*15), wariant: c.470T>C, p.(Ile157Thr); NG_008150.1:g.44869_50264del (del5395)

NBN: c.657_661delACAAA, p.(Lys219Asnfs*16)

CDKN2A: Sekwencja kodująca z uwzględnieniem alternatywnych transkryptów: LRG_11t1 (p16INK4a); LRG_11t2 (p14ARF)

HOXB13: c.251G>A, p.(Gly84Glu)

BRCA1, BRCA2, PALB2, CHEK2, NBN

BRCA1: ekson 2: c.66_67insC; p.(Glu23Argfs*18), c.68_69delAG (185delAG); p.(Glu23Valfs*17) ekson 5: c.181T>G (300T>G); p.(Cys61Gly), c.190T>C (309T>C); p.(Cys64Arg), c.190T>G (309T>G); p.(Cys64Gly) ekson 11: c.3627dupA; p.(Glu1210Argfs*9), c.3700_3704delGTAAA (3819del5); p.(Val1234Glnfs*8), c.3748G>T (3867G>T); p.(Glu1250*), c.3756_3759delGTCT (3875del4); p.(Ser1253Argfs*10), c.3779delT (3896delT); p.(Leu1260Tyrfs*4), c.3817C>T (3936C>T); p.(Gln1273*), c.4035delA (4153delA); p.(Glu1346Lysfs*20), c. 4041_4042delAG (4160delAG); p.(Gly1348Asnfs*7) ekson 20: c.5232_5238delinsGTCCAAAGCGAG (5351del7ins12); p.(Asn1745Serfs*22), c.5251C>T (5370C>T); p.(Arg1751*), c.5266dupC (5382insC); p.(Gln1756Profs*74)

BRCA2: ekson 25: c.9371A>T; p.(Asn3124Ile), c.9376delC; p.(Gln3126Serfs*37), c.9403delC; p.(Leu3135Phefs*28)

CHEK2: c.444+1G>A (IVS2+1G-A); c.1100delC, p.(T367Mfs*15),wariant: c.470T>C, p.(Ile157Thr); NG_008150.1:g. 44869_50264del (del5395)

NBN: c.657_661delACAAA, p.(Lys219fs)

PALB2: c.509_510delGA, p.(Arg170Ilefs*14)

BRCA1, BRCA2, PALB2, CHEK2, NBN, CDKN2A

BRCA1: ekson 2: c.66_67insC; p.(Glu23Argfs*18), c.68_69delAG (185delAG); p.(Glu23Valfs*17) ekson 5: c.181T>G (300T>G); p.(Cys61Gly), c.190T>C (309T>C); p.(Cys64Arg), c.190T>G (309T>G); p.(Cys64Gly) ekson 11: c.3627dupA; p.(Glu1210Argfs*9), c.3700_3704delGTAAA (3819del5); p.(Val1234Glnfs*8), c.3748G>T (3867G>T); p.(Glu1250*), c.3756_3759delGTCT (3875del4); p.(Ser1253Argfs*10), c.3779delT (3896delT); p.(Leu1260Tyrfs*4), c.3817C>T (3936C>T); p.(Gln1273*), c.4035delA (4153delA); p.(Glu1346Lysfs*20), c. 4041_4042delAG (4160delAG); p.(Gly1348Asnfs*7) ekson 20: c.5232_5238delinsGTCCAAAGCGAG (5351del7ins12); p.(Asn1745Serfs*22), c.5251C>T (5370C>T); p.(Arg1751*), c.5266dupC (5382insC); p.(Gln1756Profs*74)

BRCA2: ekson 25: c.9371A>T; p.(Asn3124Ile), c.9376delC; p.(Gln3126Serfs*37), c.9403delC; p.(Leu3135Phefs*28)

CHEK2: c.444+1G>A (IVS2+1G-A); c.1100delC, p.(Thr367Metfs*15); wariant: c.470T>C, p.(Ile157Thr); NG_008150.1:g.44869_50264del (del5395)

NBN: c.657_661delACAAA, p.(Lys219Asnfs*16)

CDKN2A: Sekwencja kodująca z uwzględnieniem alternatywnych transkryptów: LRG_11t1 (p16INK4a); LRG_11t2 (p14ARF)

PALB2: c.509_510delGA, p.(Arg170Ilefs*14)

Ekson 11 oraz fragment eksonu 15 w genie APC w tym najczęstsze mutacje w polskiej populacji: c.1500T>A; c.3183_3187delACAAA; c.3202_3205delTCAA; c.3927_3931delAAAGA

CDKN2A, CDKN2B, CDK4

ApoB100 (R3500Q, R3531C, H3543Y)

LDLR (G571E)

Sekwencja kodująca 90 genów