Molecular genetic analyses (B5) –
in addition to Rili-BÄK

Ask a question

cfDNA analyses

Investigation

EQA scheme

Program 25 (pages)

Program 26 (pages)

cfDNA isolation

ctDNA

Ringversuche:
ctDNA

58

P25:
58

61

P26:
61

Sequence variant analysis

Investigation

EQA scheme

Program 25 (pages)

Program 26 (pages)

ABCB1 c.3435T>C (ABCB1, NM_001348946.2:c.3435T>C, rs1045642)

MG2

Ringversuche:
MG2

61

S25:
61

66

S26:
66
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)

MG1

Ringversuche:
MG1

60

S25:
60

65

S26:
65
beta-fibrinogen g-455a (FGB, NM_005141.4:c.-463G>A, rs1800790)

MG1

Ringversuche:
MG1

60

S25:
60

65

S26:
65
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)

MG2

Ringversuche:
MG2

61

S25:
61

66

S26:
66
c-KIT p.D816V (KIT, NM_000222.3:c.2447A>T, rs121913507)

MG2

Ringversuche:
MG2

61

S25:
61

66

S26:
66
CETP B1/B2 (CETP, NM_000078.3:c.118+279G>A, rs708272)

MG1

Ringversuche:
MG1

60

S25:
60

65

S26:
65
Col1A1 SP1 (Col1A1, NM_000088.4:c.104-441G>T, rs1800012)

MG1

Ringversuche:
MG1

60

S25:
60

65

S26:
65
CYP2C8*3 (CYP2C8, NM_000770.3:c.1196A>G, rs10509681)

MG2

Ringversuche:
MG2

61

S25:
61

66

S26:
66
CYP3A4*22 (CYP3A4, NM_017460.6:c.522-191C>T, rs35599367)

MG2

Ringversuche:
MG2

61

S25:
61

66

S26:
66
CYP3A5*3 (CYP3A5, NM_000777.5:c.219-237A>G, rs776746)

MG1

Ringversuche:
MG1

60

S25:
60

65

S26:
65
Cytochrome 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)

MG2

Ringversuche:
MG2

61

S25:
61

66

S26:
66
DPD activity score according to CPIC

MG2

Ringversuche:
MG2

61

S25:
61

66

S26:
66
DPD activity score according to DGHO

MG2

Ringversuche:
MG2

61

S25:
61

66

S26:
66
ESR1 (estrogen receptor 1), PIK3CA (phosphatidylinositol-4,5-bisphosphate-3-kinase catalytic subunit 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), specifically covering at least codons 310-547.
– 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, and 21 (PIK3CA, NM_006218.4), often referred to as exons 7, 9, and 20

LBbcp2

Ringversuche:
LBbcp2

–

S25:

64

S26:
64
ESR1 (estrogen receptor 1), PIK3CA (phosphatidylinositol-4,5-bisphosphate-3-kinase catalytic subunit 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)

LBbcp1

Ringversuche:
LBbcp1

–

S25:

63

S26:
63
Factor VII (R353Q) (F7, NM_019616.4:c.1172G>A, rs6046)

MG1

Ringversuche:
MG1

60

S25:
60

65

S26:
65
FSAP Marburg-I (HABP2, NM_004132.5:c.1601G>A, rs7080536)

MG1

Ringversuche:
MG1

60

S25:
60

65

S26:
65
FV-Cambridge (F5, NM_000130.5:c.1001G>C, rs118203906)

DI

Ringversuche:
DI

59

S25:
59

62

S26:
62
FV-H1299R (F5, NM_000130.5:c.3980A>G, rs1800595)

DI

Ringversuche:
DI

59

S25:
59

62

S26:
62
FV-Hong Kong (F5, NM_000130.5:c.1000A>G, rs118203905)

DI

Ringversuche:
DI

59

S25:
59

62

S26:
62
FXII c46t (F12, NM_000505.4:c.-4T>C rs1801020)

MG1

Ringversuche:
MG1

60

S25:
60

65

S26:
65
FXIII V34L (F13A1, NM_000129.4:c.103G>T, rs5985)

MG1

Ringversuche:
MG1

60

S25:
60

65

S26:
65
GPIIIa (ITGB3, NM_000212.3:c.176T>C, rs5918)

MG1

Ringversuche:
MG1

60

S25:
60

65

S26:
65
IL28B (C/T polymorphism) (IFNL4, NM_001276254.2:c.151-152G>A, rs12979860)

MG2

Ringversuche:
MG2

61

S25:
61

66

S26:
66
IL6 G(-174)C (IL6, NM_000600.4:c.-237C>G, rs1800795)

MG2

Ringversuche:
MG2

61

S25:
61

66

S26:
66
ITGA2 GpIaIIa C807T (ITGA2, NM_002203.4:c.759C>T, rs1126643)

MG1

Ringversuche:
MG1

60

S25:
60

65

S26:
65
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)

MG2

Ringversuche:
MG2

61

S25:
61

66

S26:
66
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)

MG2

Ringversuche:
MG2

61

S25:
61

66

S26:
66
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)

MG1

Ringversuche:
MG1

60

S25:
60

65

S26:
65
PAI-I 4G5G (SERPINE1, NM_000602.5:c.-820G[(4_5)], rs1799762)

MG1

Ringversuche:
MG1

60

S25:
60

65

S26:
65
TNF alpha 238 (TNF, NM_000594.3:c.-418G>A, rs361525)

MG2

Ringversuche:
MG2

61

S25:
61

66

S26:
66
TNF alpha 308 (TNF, NM_000594.3:c.-488G>A, rs1800629)

MG2

Ringversuche:
MG2

61

S25:
61

66

S26:
66
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)

MG1

Ringversuche:
MG1

60

S25:
60

65

S26:
65
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)

MG1

Ringversuche:
MG1

60

S25:
60

65

S26:
65

DNA sequencing

Investigation

EQA scheme

Program 25 (pages)

Program 26 (pages)

DNA sequencing

SQ

Ringversuche:
SQ

63

S25:
63

68

S26:
68

Sequence variant analysis with medical interpretation

Investigation

EQA scheme

Program 25 (pages)

Program 26 (pages)

ESR1 (estrogen receptor 1), PIK3CA (phosphatidylinositol-4,5-bisphosphate-3-kinase catalytic subunit 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), specifically covering at least codons 310-547.
– 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, and 21 (PIK3CA, NM_006218.4), often referred to as exons 7, 9, and 20

LBbcp2

Ringversuche:
LBbcp2

–

S25:

64

S26:
64
ESR1 (estrogen receptor 1), PIK3CA (phosphatidylinositol-4,5-bisphosphate-3-kinase catalytic subunit 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)

LBbcp1

Ringversuche:
LBbcp1

–

S25:

63

S26:
63

Ask a question

back to EQA schemes

Molecular genetic analyses (B5) – in addition to Rili-BÄK

cfDNA analyses

cfDNA isolation

Sequence variant analysis

ABCB1 c.3435T>C (ABCB1, NM_001348946.2:c.3435T>C, rs1045642)

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)

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)

CETP B1/B2 (CETP, NM_000078.3:c.118+279G>A, rs708272)

Col1A1 SP1 (Col1A1, NM_000088.4:c.104-441G>T, rs1800012)

CYP2C8*3 (CYP2C8, NM_000770.3:c.1196A>G, rs10509681)

CYP3A4*22 (CYP3A4, NM_017460.6:c.522-191C>T, rs35599367)

CYP3A5*3 (CYP3A5, NM_000777.5:c.219-237A>G, rs776746)

Cytochrome 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 according to CPIC

DPD activity score according to DGHO

Factor VII (R353Q) (F7, NM_019616.4:c.1172G>A, rs6046)

FSAP Marburg-I (HABP2, NM_004132.5:c.1601G>A, rs7080536)

FV-Cambridge (F5, NM_000130.5:c.1001G>C, rs118203906)

FV-H1299R (F5, NM_000130.5:c.3980A>G, rs1800595)

FV-Hong Kong (F5, NM_000130.5:c.1000A>G, rs118203905)

FXII c46t (F12, NM_000505.4:c.-4T>C rs1801020)

FXIII V34L (F13A1, NM_000129.4:c.103G>T, rs5985)

GPIIIa (ITGB3, NM_000212.3:c.176T>C, rs5918)

IL28B (C/T polymorphism) (IFNL4, NM_001276254.2:c.151-152G>A, rs12979860)

IL6 G(-174)C (IL6, NM_000600.4:c.-237C>G, rs1800795)

ITGA2 GpIaIIa C807T (ITGA2, NM_002203.4:c.759C>T, rs1126643)

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)

TNF alpha 238 (TNF, NM_000594.3:c.-418G>A, rs361525)

TNF alpha 308 (TNF, NM_000594.3:c.-488G>A, rs1800629)

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 sequencing

DNA sequencing

Sequence variant analysis with medical interpretation

Molecular genetic analyses (B5) –
in addition to Rili-BÄK

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)

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)

Cytochrome P450 2B6, (CYP2B6),- CYP2B64 (CYP2B6,NM_000767.5:c.785A>G, rs2279343)
– CYP2B69 (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)

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)

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)