MYD88 Exon 5 Sequencing
| Label Mnemonic: | MYD88, MYD88BL, MYD8 |
| Epic code: | LAB9895 |
| Downtime form: | Doctor/Provider Orders - Pathology Molecular |
6240 RCP
384-9568
Formalin Fixed, Parafin Embedded Tissue Block
10 unstained 5–10 μM thick slides at 20–25°C and an H&E slide of the tissue or clot.
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| Pink top tube 6 mL (K2-EDTA) |
Collect 5–10 mL Peripheral Blood in EDTA (in TWO Pink tubes)
Testing requires a dedicated tube.
Collect 3–5 mL Bone Marrow Aspirate in EDTA Pink top tube)
Testing requires a dedicated tube.
Absolute Minimum: 1 mL Bone Marrow
Tissue (fresh or formalin fixed paraffin embedded)
Frozen, clotted or severely hemolyzed specimens are NOT acceptable. Specimens that have been decalcified or fixed in B5 fixative will not be accepted. Tumor specimens with inadequate cellular material or a tumor percentage will be rejected.
6–10 days
Massively parallel Next Generation DNA sequencing by synthesis, semiconductor technology, Ion Personal Genomics Machine
Myeloid differentiation primary response 88 (MYD88) encodes a cytosolic adapter protein that is frequently mutated in Waldenström macroglobulinemia (WM) and lymphoplasmacytic lymphoma (LPL). Approximately 90% of cases harbor a leucine to proline mutation at codon 265 (p.L265P, c.794T>C) in exon 5. Detection of MYD88 L265P can help establish a diagnosis of LPL in patients with typical histologic and flow cytometry findings as it rarely occurs in marginal zone lymphoma or chronic lymphocytic leukemia. MYD88 mutation status may also assist with risk stratification of IgM monoclonal gammopathy of undetermined significance or MGUS as patients who have the mutation are possibly at increased risk of progression to WM or LPL.