Myelodysplastic syndromes (MDS) and acute leukemia (AL) are clinically diverse and genetically heterogeneous groups of hematological malignancies characterized by ineffective hematopoiesis, bone marrow dysplasia, and peripheral cytopenias. MDS/AL primarily present as sporadic late onset cancers, diagnosed at a median age >65. However, hereditary forms of MDS/AL have been increasingly recognized in recent years. Hereditary MDS/AL can occur in the context of familial MDS/AL that have MDS/AL as the principal clinical feature (also referred to as pure familial leukemia), or arise from inherited bone marrow failure syndromes, such as Fanconi anemia, dyskeratosis congenita/telomerase biology disorder, Diamond–Blackfan anemia, and severe congenital neutropenia. Patients with pure 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 these families demonstrate a pattern of inheritance consistent with a single gene mutation, inherited in an autosomal dominant manner. This test is specifically designed to detect germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue. The panel includes sequence and deletion/duplication analysis of all the listed genes.

Institutional Price 
6 weeks
CPT Code 
Test Code 
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Cultured Cells
Extracted DNA
Additional Information 
Sample specifications: 2 T-25 flasks of cultured skin fibroblasts (Recommended); Skin biopsy for culturing skin fibroblasts; Extracted DNA (From fibroblasts if the patient has a history of MDS/leukemia); 3 to 10 cc of blood in a purple top (EDTA) tube
Variants within exon 15 of the PMS2 gene may not be analyzed or reported due to homology issues. Due to high homology, the sensitivity of this assay may be reduced in exon 2 and exons 12-15 of PMS2.
NOTE: We cannot bill insurance for this test.
Peripheral blood samples are not preferred for patients with a history of MDS/leukemia