The familial occurrence of myelodysplastic syndrome (MDS) and/or acute leukemia (AL) is rare and heterogeneous. Some families inherit purely AL, and others inherit purely MDS or both disorders within the same pedigree. Many cases of familial MDS/AL also arise in those with particular genetic syndromes with additional clinical findings. Patients with familial MDS/AL are younger at presentation than individuals with sporadic disease and are recognized by an unusual family history of more than one first-degree relative with MDS/AL. Most of the families show a pattern of inheritance consistent with a single gene mutation, inherited in an autosomal dominant manner.
Our Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia Panel includes sequence and deletion/duplication analysis of the following 10 genes: ANKRD26, CEBPA, GATA2, RUNX1, SRP72, TERC, TERT, TP53, plus sequence analysis only of ETV6 and DDX41.
NOTE: blood samples are not accepted for this panel for patients with a history of MDS/leukemia. Please send cultured skin fibroblasts instead (2 T-25 flasks). Please contact the laboratory for more information about specimen requirements.
Any gene in the Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia Panel can also be ordered individually. Please contact us directly for cost and CPT code information.