Molecular genetic analyses (B5) –
mandatory according to Rili-BÄK
ctDNA analyses
Investigation
EQA scheme
Program 25 (pages)
Program 26 (pages)
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BRAF proto-oncogene, serine/threonine kinase
– BRAF p.V600E (BRAF,NM_004333.6:c.1799T>A, rs113488022) -
Epidermal growth factor receptor
– EGFR p.T790M (EGFR,NM_005228.5:c.2369C>T, rs121434569) -
KRAS proto-oncogene, GTPase
Sequence variants offered:
– 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.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 proto-oncogene, GTPase
– NRAS p.Q61 (NRAS,NM_002524.5:c.181C>T>G>A, rs121913254)
– NRAS p.Q61 (NRAS,NM_002524.5:c.182A>T>G>C, rs11554290)
– NRAS p.Q61 (NRAS,NM_002524.5:c.183A>T>C, rs121913255)
DNA isolation
Investigation
EQA scheme
Program 25 (pages)
Program 26 (pages)
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Factor V (Leiden),
FV Leiden (F5,NM_000130.5:c.1601G>A, rs6025) -
Hereditary hemochromatosis, HFE,HFE C282Y (HFE,NM_000410.4:c.845G>A, rs1800562),
HFE C282Y (HFE,NM_000410.4:c.845G>A, rs1800562) -
Methylenetetrahydrofolate reductase (MTHFR),MTHFR A1298C (MTHFR,NM_005957.5:c.1286A>C, rs1801131)
MTHFR C677T (MTHFR,NM_005957.5:c.665C>T, rs1801133) -
Prothrombin, F2
FII g20210a (F2,NM_000506.5:c.*97G>A, rs1799963)
Sequence variant analysis
Investigation
EQA scheme
Program 25 (pages)
Program 26 (pages)
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21-hydroxylase deficiency (adrenogenital syndrome)
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Alpha-1-antitrypsin, (serpin family A member1, SERPINA1)- AAT-PI*S (SERPINA1,NM_000295.5:c.863A>T, rs17580)
– AAT-PI*Z (SERPINA1, NM_000295.5:c.1096G>A, rs28929474)
– AAT – Genotyping -
Angiotensin converting enzyme apolipoprotein, ACE,ACE I/D (ACE,NM_000789.3:c.2306-117_2306-116insAF118569.1:g.14094_14382, rs1799752)
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Antithrombin, SERPINC1,AT3 Cambridge Type I/II (SERPINC1, NM_000488.4:c.1246G>C>T, rs121909548)
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Apolipoprotein B 100, APOB,ApoB100 (APOB, NM_000384.3:c.10580G>A, rs5742904)
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Apolipoprotein E (APOE),- ApoE2 (APOE,NM_000041.4:c.526C>T, rs7412)
– ApoE4 (APOE,NM_000041.4:c.388T>C, rs429358)
– ApoE – Genotyping -
C-C motif chemokine receptor 5, (CCR5),
CCR5-del32bp (CCR5, NM_001394783.1:c.554_585del, rs333) -
Cystic fibrosis
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Cytochrome P450 2C19, (CYP2C19),- CYP2C19*2 (CYP2C19,NM_000769.4:c.681G>A, rs4244285)
– CYP2C19*3 (CYP2C19,NM_000769.4:c.636G>A, rs4986893)
– CYP2C19*17 (CYP2C19,NM_000769.4:c.-806C>T, rs12248560)
– CYP2C19 – Genotyping -
Cytochrome P450 2C9, (CYP2C9),- CYP2C9*2 (CYP2C9,NM_000771.4:c.430C>T, rs1799853)
– CYP2C9*3 (CYP2C9,NM_000771.4:c.1075A>C, rs1057910)
– CYP2C9 – Genotyping -
Cytochrome P450 2D6, (CYP2D6),CYP2D6*2-296 (CYP2D6*2,NM_000106.6:c.886C>T, rs16947)
– CYP2D6*2-486 (CYP2D6*2,NM_000106.6:c.1457G>C, rs1135840)
– CYP2D6*3 (CYP2D6*3, NM_000106.6:c.775del, rs35742686)
– CYP2D6*4 (CYP2D6*4,NM_000106.6:c.506-1G>A, rs3892097)
– CYP2D6*6 (CYP2D6*6,NM_000106.6:c.454del, rs5030655)
– CYP2D6*7 (CYP2D6*7,NM_000106.6:c.971A>C, rs5030867)
– CYP2D6*8 (CYP2D6*8,NM_000106.6:c.505G>T, rs5030865)
– CYP2D6*9 (CYP2D6*9,NM_000106.6:c.841_843del, rs5030656)
– CYP2D6*10 (CYP2D6*10,NM_000106.6:c.100C>T, rs1065852)
– CYP2D6*17 (CYP2D6*17,NM_000106.6:c.320C>T, rs28371706)
– CYP2D6*35 (CYP2D6*35,NM_000106.6:c.31G>A, rs769258)
– CYP2D6*41 (CYP2D6*41, NM_000106.6:c.985+39G>A, rs28371725)
– CYP2D6*5 (CYP2D6,deletion)
– CYP2D6*xN (CYP2D6,duplication/amplification) -
Dihydropyrimidine dehydrogenase, (DPYD),- DPYD*2A (DPYD,NM_000110.4:c.1905+1G>A, rs3918290)
– DPYD*13 (DPYD,NM_000110.4:c.1679T>G, rs55886062)
– DPYD p.D949V (DPYD, NM_000110.4:c.2846A>T, rs67376798)
– DPYD c.1129-5923C>G (DPYD,NM_000110.4:c.1129-5923C>G, rs75017182)
– DPYD c.1236G>A (DPYD,NM_000110.4:c.1236G>A, rs56038477)
– DPYD HapB3 (DPYD,NM_000110.4:c.1129-5923C>G, rs75017182,
NM_000110.4:c.1236G>A, rs56038477) -
Duchenne and Becker muscular dystrophy
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Factor V (Leiden),
FV Leiden (F5,NM_000130.5:c.1601G>A, rs6025) -
Familial breast/ovarian carcinoma (BRCA)
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Fragile X syndrome
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Hereditary colon cancer without polyposis
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Hereditary hearing disorders
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Hereditary hemochromatosis (genotyping and interpretation)
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Hereditary hemochromatosis, HFE,HFE C282Y (HFE,NM_000410.4:c.845G>A, rs1800562),
HFE C282Y (HFE,NM_000410.4:c.845G>A, rs1800562) -
HLA-B*27, (HLA-B),HLA-B*27:01 (HLA-B, NM_005514.8)
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HLA-B*57:01 (HLA-B, NM_005514.8)
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Huntington’s disease
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Lactase phlorizin hydrolase (LCT)LCT c-13910t (LCT, NM_005915.6:c.1917+326C>T, rs4988235)
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Methylenetetrahydrofolate reductase (MTHFR),MTHFR A1298C (MTHFR,NM_005957.5:c.1286A>C, rs1801131)
MTHFR C677T (MTHFR,NM_005957.5:c.665C>T, rs1801133) -
Prader-Willi and Angelman syndromes
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Prothrombin, F2
FII g20210a (F2,NM_000506.5:c.*97G>A, rs1799963) -
Spinal muscular atrophy
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Thiopurine S-methyltransferase, (TPMT),- TPMT*2 (TPMT, NM_000367.5:c.238G>C, rs1800462)
– TPMT*3B (TPMT,NM_000367.5:c.460G>A, rs1800460)
– TPMT*3C (TPMT,NM_000367.5:c.719A>G, rs1142345)
– TPMT – Genotyping -
Uridyl glucuronyltransferase-1A, UGT1A1,UGT1A1*28 (UGT1A1, NM_000463.3:c.-41_-40dupTA, rs3064744)
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Wilson’s disease, ATP7B,ATP7B-C3207A (ATP7B, NM_000053.4:c.3207C>A, rs76151636)
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Y chromosome microdeletions