Molekulargenetische Untersuchungen (B5) –
verpflichtend nach Rili-BÄK
ctDNA‑Untersuchungen
Untersuchung
Ringversuch
Programm 25 (Seiten)
Programm 26 (Seiten)
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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
angebotene Sequentvarianten:
– 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 Isolierung
Untersuchung
Ringversuch
Programm 25 (Seiten)
Programm 26 (Seiten)
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Faktor V (Leiden),
FV-Leiden (F5, NM_000130.5:c.1601G>A, rs6025) -
Hereditäre Hämochromatose, 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)
Sequenzvarianten-Analyse
Untersuchung
Ringversuch
Programm 25 (Seiten)
Programm 26 (Seiten)
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21-Hydroxylase-Defizienz (Adrenogenitales Syndrom)
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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 – Genotypisierung -
Angiotensin Converting Enzym Apolipoprotein, ACE,
ACE I/D (ACE, NM_000789.3:c.2306-117_2306-116insAF118569.1:g.14094_14382, rs1799752) -
Antithrombin, SERPINC1,
AT3 Cambridge Typ I/II (SERPINC1, NM_000488.4:c.1246G>C>T, rs121909548) -
Apolipoprotein B 100, APOB,
ApoB100 (APOB, NM_000384.3:c.10580G>A, rs5742904) -
Apolipoprotein E (APOE),
– ApoE2 (APOE, NM_000041.4:c.526C>T, rs7412)
– ApoE4 (APOE, NM_000041.4:c.388T>C, rs429358)
– ApoE – Genotypisierung -
C-C motif chemokine receptor 5, (CCR5),
CCR5-del32bp (CCR5, NM_001394783.1:c.554_585del, rs333) -
Cytochrom 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 – Genotypisierung -
Cytochrom P450 2C9, (CYP2C9),
– CYP2C9*2 (CYP2C9, NM_000771.4:c.430C>T, rs1799853)
– CYP2C9*3 (CYP2C9, NM_000771.4:c.1075A>C, rs1057910)
– CYP2C9 – Genotypisierung -
Cytochrom 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, Duplikation/Amplifikation) -
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 und Becker Muskeldystrophie
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Erbliche Hörstörungen
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Faktor V (Leiden),
FV-Leiden (F5, NM_000130.5:c.1601G>A, rs6025) -
Familiäres Brust-/Ovarial- Karzinom (BRCA)
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Fragiles-X Syndrom
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Hereditäre Hämochromatose (genotyping and interpretation)
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Hereditäre Hämochromatose, HFE,
HFE C282Y (HFE, NM_000410.4:c.845G>A, rs1800562),
HFE C282Y (HFE, NM_000410.4:c.845G>A, rs1800562) -
Hereditäres Kolonkarzinom ohne Polyposis
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HLA-B*27, (HLA-B),
HLA-B*27:01 (HLA-B, NM_005514.8) -
HLA-B*57:01 (HLA-B, NM_005514.8)
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Huntington’sche Krankheit
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Lactase-Phlorizin-Hydrolase, (LCT)
LCT c-13910t (LCT, NM_005915.6:c.1917+326C>T, rs4988235) -
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 und Angelman Syndrome
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Prothrombin, F2
FII g20210a (F2, NM_000506.5:c.*97G>A, rs1799963) -
Spinale Muskelatrophie
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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 – Genotypisierung -
Uridyl-Glucuronyltransferase-1A, UGT1A1,
UGT1A1*28 (UGT1A1, NM_000463.3:c.-41_-40dupTA, rs3064744) -
Wilson-Krankheit, ATP7B,
ATP7B-C3207A (ATP7B, NM_000053.4:c.3207C>A, rs76151636) -
Y-Chromosom, Mikrodeletionen
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Zystische Fibrose, Mukoviszidose