Myeloische Erkrankung, Gesamtpanel NGS

ALAS2 (Ex1-11), ANKRD26 (Ex1-34), ARID1A (Ex1-20), ASXL1 (Ex12),  ASXL2 (Ex10-11), ATRX (Ex8-10 und 17-35), BCOR (Ex2-15), BCORL1 (Ex 1-12), BRAF (Ex 15), CALR (Ex9), CBL (Ex8-9), CBLB (Ex 9-10), CBLC (Ex7,8), CEBPA (Ex1), CSF3R (Ex14-17), CSMD1 (Ex 1-70), CSNK1A1 (Ex3-4), CUX1 (Ex1-24), DAXX (Ex1-8), DDX41 (Ex1-17), DHX15 (Ex3),  DNMT3A (Ex2-23),  ETNK1 (Ex1-8), ETV6 (Ex1-8), EZH2 (Ex2-17), FLT3 (Ex13-15 und 20), GATA1 (Ex2), GATA2 (Ex1-6), GNAS (Ex 8-9), HRAS (Ex2-5), IDH1 (Ex4), IDH2 (Ex4), IKZF1 (Ex2-8), JAK2 (12-15), JAK3 (Ex2-24), KDM6A (Ex1-29), KIT (Ex2,8-17), KRAS (Ex2-5), MPL(Ex4-12), NFE2 (Ex3-4), NPM1 (Ex11), NRAS (Ex2-5), PDGFRA (Ex12,14,18), PHF6 (Ex2-10), PIGA (Ex1-6), PPMD1 (Ex1-6), PTEN (Ex5,7), PTPN11 (Ex3,13), RAD21 (Ex2-14), RUNX1 (Ex2-9), SAMD9 (Ex3), SAMD9L (Ex5), SETBP1 (Ex4), SF1 (Ex1-13), SF3A1 (Ex1-16), SF3B1 (Ex13-15), SH2B3 (Ex2), SRP72 (Ex1-19), SRSF2 (Ex1), STAG1 (Ex2-34), STAG2 (Ex3-35), STAT3 Ex3,21), TET2 (Ex2-11), THPO (Ex1-6), TP53 (Ex2-11), U2AF1 (Ex2,6), U2AF2 (Ex1-12), UBA1 (Ex3), WT1 (Ex7, 9), ZBTB7A (Ex2,3), ZRSR2 (Ex1-11)

Siehe auch Tabelle Gen-Chromosom-Transkript-IDs des myeloischen Gesamtpanels.

EDTA-Blut oder KM (EDTA bevorzugt): 1-2 ml

NGS

EBM-Abrechnung möglich.

Markersuche bei V.a. noch unklare, myeloische Neoplasie. Sensitivität für MDS oder z.B. CMML > 90%.

Literatur:

• Bejar et a., N Engl J Med 2011;364:2496-2506,
• Yoshida et al., Nature 2011 doi:10.1038/nature10496
• WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. WHO Classification of Tumours, Revised 4th Edition, Volume 2. Edited by Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J. 2017.