Molekulargenetische Untersuchungen (B5) –
zusätzlich zur Rili-BÄK
cfDNA‑Untersuchungen
Untersuchung
Ringversuch
Programm 25 (Seiten)
Programm 26 (Seiten)
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cfDNA Isolierung
Sequenzvarianten-Analyse
Untersuchung
Ringversuch
Programm 25 (Seiten)
Programm 26 (Seiten)
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ABCB1 c.3435T>C (ABCB1, NM_001348946.2:c.3435T>C, rs1045642)
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Aldolase, fructose-bisphosphate B, (ALDOB),
– AldoB 149 (ALDOB, NM_000035.4:c.448G>C, rs1800546)
– AldoB 174 (ALDOB, NM_000035.4:c.524C>A, rs76917243)
– AldoB 334 (ALDOB, NM_000035.4:c.1005C>G, rs78340951) -
beta-Fibrinogen g-455a (FGB, NM_005141.4:c.-463G>A, rs1800790)
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BRAF p.V600 (BRAF, NP_004324.2:p.V600E/K),
– BRAF V600E (BRAF, NM_004333.6:c.1799T>A, rs113488022)
– BRAF V600K (BRAF, NM_004333.6:c.1798_1799delinsAA, rs121913227) -
c-KIT p.D816V (KIT, NM_000222.3:c.2447A>T, rs121913507)
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CETP B1/B2 (CETP, NM_000078.3:c.118+279G>A, rs708272)
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Col1A1 SP1 (Col1A1, NM_000088.4:c.104-441G>T, rs1800012)
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CYP2C8*3 (CYP2C8, NM_000770.3:c.1196A>G, rs10509681)
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CYP3A4*22 (CYP3A4, NM_017460.6:c.522-191C>T, rs35599367)
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CYP3A5*3 (CYP3A5, NM_000777.5:c.219-237A>G, rs776746)
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Cytochrom P450 2B6, (CYP2B6),
– CYP2B6*4 (CYP2B6, NM_000767.5:c.785A>G, rs2279343)
– CYP2B6*9 (CYP2B6, NM_000767.5:c.516G>T, rs3745274)
– CYP2B6*6 (CYP2B6, NM_000767.5:c.785A>G, rs2279343 + NM_000767.5:c.516G>T, rs3745274) -
DPD activity score acc. to CPIC
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DPD activity score acc. to DGHO
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ESR1 (Östrogenrezeptor 1), PIK3CA (Phosphatidylinositol-4,5-Bisphosphat-3-Kinase-katalytische Untereinheit Alpha)
– p.E380Q (ESR1, NM_000125.4:c.1138G>C, rs1057519827)
– p.L536R (ESR1, NM_000125.4:c.1607T>G, rs1057519717)
– p.Y537N (ESR1, NM_000125.4:c.1609T>A, rs2152506534)
– p.Y537C (ESR1, NM_000125.4:c.1610A>G, rs2152506541)
– p.Y537S (ESR1, NM_000125.4:c.1610A>C, rs2152506541)
– p.D538G (ESR1, NM_000125.4:c.1613A>G, rs1585254649)
– ESR1 Exons 3-7 (ESR1, NM_000125.4),spezifisch müssen mindestens Codons 310-547 abgedeckt sein.
– p.E542K (PIK3CA, NM_006218.4:c.1624G>A, rs121913273)
– p.E545K (PIK3CA, NM_006218.4:c.1633G>A, rs104886003)
– p.H1047R (PIK3CA, NM_006218.4:c.3140A>G, rs121913279)
– PIK3CA Exons 8, 10 und 21 (PIK3CA, NM_006218.4), häufig auch als Exons 7, 9 und 20 bezeichnet -
ESR1 (Östrogenrezeptor 1), PIK3CA (Phosphatidylinositol-4,5-Bisphosphat-3-Kinase-katalytische Untereinheit Alpha)
– p.E380Q (ESR1, NM_000125.4:c.1138G>C, rs1057519827)
– p.L536R (ESR1, NM_000125.4:c.1607T>G, rs1057519717)
– p.Y537N (ESR1, NM_000125.4:c.1609T>A, rs2152506534)
– p.Y537C (ESR1, NM_000125.4:c.1610A>G, rs2152506541)
– p.Y537S (ESR1, NM_000125.4:c.1610A>C, rs2152506541)
– p.D538G (ESR1, NM_000125.4:c.1613A>G, rs1585254649)
– p.E542K (PIK3CA, NM_006218.4:c.1624G>A, rs121913273)
– p.E545K (PIK3CA, NM_006218.4:c.1633G>A, rs104886003)
– p.H1047R (PIK3CA, NM_006218.4:c.3140A>G, rs121913279) -
Faktor VII (R353Q) (F7, NM_019616.4:c.1172G>A, rs6046)
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FSAP Marburg-I (HABP2, NM_004132.5:c.1601G>A, rs7080536)
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FV-Cambridge (F5, NM_000130.5:c.1001G>C, rs118203906)
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FV-H1299R (F5, NM_000130.5:c.3980A>G, rs1800595)
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FV-Hong-Kong (F5, NM_000130.5:c.1000A>G, rs118203905)
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FXII c46t (F12, NM_000505.4:c.-4T>C rs1801020)
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FXIII V34L (F13A1, NM_000129.4:c.103G>T, rs5985)
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GPIIIa (ITGB3, NM_000212.3:c.176T>C, rs5918)
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IL28B (C/T Polymorphismus) (IFNL4, NM_001276254.2:c.151-152G>A, rs12979860)
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IL6 G(-174)C (IL6, NM_000600.4:c.-237C>G, rs1800795)
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ITGA2 GpIaIIa C807T (ITGA2, NM_002203.4:c.759C>T, rs1126643)
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KRAS proto-oncogene, GTPase (KRAS),
KRAS p.G12/p.G13 (KRAS, NP_004976.2:p.G12/G13)
– KRAS p.G12 (KRAS, NM_004985.5:c.34G>T>C>A, rs121913530)
– KRAS p.G12 (KRAS, NM_004985.5:c.35G>T>C>A, rs121913529)
– KRAS p.G13 (KRAS, NM_004985.5:c.37G>T>C>A, rs121913535)
– KRAS p.G13 (KRAS, NM_004985.5:c.38G>T>C>A, rs112445441)
KRAS p.G12 (KRAS, NP_004976.2:p.G12)
– KRAS p.G12 (KRAS, NM_004985.5:c.34G>T>C>A, rs121913530)
– KRAS p.G12 (KRAS, NM_004985.5:c.35G>T>C>A, rs121913529)
KRAS p.G13 (KRAS, NP_004976.2:p.G13)
– KRAS p.G13 (KRAS, NM_004985.5:c.37G>T>C>A, rs121913535)
– KRAS p.G13 (KRAS, NM_004985.5:c.38G>T>C>A, rs112445441)
KRAS p.Q61 (KRAS, NP_004976.2:p.Q61)
– KRAS p.Q61 (KRAS, NM_004985.5:c.181C>G>A, rs121913238)
– KRAS p.Q61 (KRAS, NM_004985.5:c.182A>T>G>C, rs121913240)
– KRAS p.Q61 (KRAS, NM_004985.5:c.183A>T>C, rs17851045) -
NRAS (NRAS, NP_002515.1:p.Q61)
– NRAS (NRAS, NM_002524.5:c.181C>T>G>A, rs121913254)
– NRAS (NRAS, NM_002524.5:c.182A>T>G>C, rs11554290)
– NRAS (NRAS, NM_002524.5:c.183A>T>C, rs121913255) -
Nucleotide binding oligomerization domain containing 2, (NOD2),
– NOD R702W (NOD2, NM_001370466.1:c.2023C>T, rs2066844)
– NOD G908R (NOD2, NM_001370466.1:c.2641G>C, rs2066845)
– NOD L1007finsC (NOD2, NM_001370466.1:c.2938dup, rs2066847) -
PAI-I 4G5G (SERPINE1, NM_000602.5:c.-820G[(4_5)], rs1799762)
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TNF alpha 238 (TNF, NM_000594.3:c.-418G>A, rs361525)
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TNF alpha 308 (TNF, NM_000594.3:c.-488G>A, rs1800629)
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Vitamin D receptor, (VDR),
– VDR BsmI (VDR, NM_000376.3:c.1024+283G>A, rs1544410)
– VDR ApaI (VDR, NM_000376.3:c.1025-49G>T, rs7975232)
– VDR TaqI (VDR, NM_000376.3:c.1056T>C, rs731236) -
Vitamin K epoxide reductase complex subunit 1 (VKORC1)
– VKORC1 G-1639 (VKORC1, NM_024006.6:c.-1639G>A, rs9923231)
– VKORC1 C1173T (VKORC1, NM_024006.6:c.174-136C>T, rs9934438)
DNA-Sequenzierung
Untersuchung
Ringversuch
Programm 25 (Seiten)
Programm 26 (Seiten)
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DNA-Sequenzierung
Sequenzvarianten-Analyse mit medizinischer Interpretation
Untersuchung
Ringversuch
Programm 25 (Seiten)
Programm 26 (Seiten)
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ESR1 (Östrogenrezeptor 1), PIK3CA (Phosphatidylinositol-4,5-Bisphosphat-3-Kinase-katalytische Untereinheit Alpha)
– p.E380Q (ESR1, NM_000125.4:c.1138G>C, rs1057519827)
– p.L536R (ESR1, NM_000125.4:c.1607T>G, rs1057519717)
– p.Y537N (ESR1, NM_000125.4:c.1609T>A, rs2152506534)
– p.Y537C (ESR1, NM_000125.4:c.1610A>G, rs2152506541)
– p.Y537S (ESR1, NM_000125.4:c.1610A>C, rs2152506541)
– p.D538G (ESR1, NM_000125.4:c.1613A>G, rs1585254649)
– ESR1 Exons 3-7 (ESR1, NM_000125.4),spezifisch müssen mindestens Codons 310-547 abgedeckt sein.
– p.E542K (PIK3CA, NM_006218.4:c.1624G>A, rs121913273)
– p.E545K (PIK3CA, NM_006218.4:c.1633G>A, rs104886003)
– p.H1047R (PIK3CA, NM_006218.4:c.3140A>G, rs121913279)
– PIK3CA Exons 8, 10 und 21 (PIK3CA, NM_006218.4), häufig auch als Exons 7, 9 und 20 bezeichnet -
ESR1 (Östrogenrezeptor 1), PIK3CA (Phosphatidylinositol-4,5-Bisphosphat-3-Kinase-katalytische Untereinheit Alpha)
– p.E380Q (ESR1, NM_000125.4:c.1138G>C, rs1057519827)
– p.L536R (ESR1, NM_000125.4:c.1607T>G, rs1057519717)
– p.Y537N (ESR1, NM_000125.4:c.1609T>A, rs2152506534)
– p.Y537C (ESR1, NM_000125.4:c.1610A>G, rs2152506541)
– p.Y537S (ESR1, NM_000125.4:c.1610A>C, rs2152506541)
– p.D538G (ESR1, NM_000125.4:c.1613A>G, rs1585254649)
– p.E542K (PIK3CA, NM_006218.4:c.1624G>A, rs121913273)
– p.E545K (PIK3CA, NM_006218.4:c.1633G>A, rs104886003)
– p.H1047R (PIK3CA, NM_006218.4:c.3140A>G, rs121913279)