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Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) via the DDX41 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
DDX41 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
5299DDX4181479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Siwu Peng, PhD

Clinical Features and Genetics

Clinical Features

Myelodysplastic syndromes (MDS) are clonal hematopoietic stem cell disorders characterized by ineffective hematopoiesis, peripheral blood cytopenias and hypercellular bone marrow. Progression of MDS to acute myeloid leukemia (AML) occurs in many patients- up to 40% in some studies (Heaney et al. 1999). MDS and AML are most often sporadic, late-onset malignancies, but recent data indicate that hereditary MDS/AML may have a higher incidence than was thought previously and may have a younger age of onset than sporadic cases (Churpek et al. 2015; Bannon and DiNardo 2016). MDS/AML are associated with several primary bone marrow failure disorders including Diamond-Blackfan anemia, Fanconi anemia, severe congenital neutropenia, Shwachman-Diamond syndrome, and dyskeratosis congenita (Owen et al. 2008, Auerbach 2009). Several additional MDS/AML predisposition syndromes have also been recognized that include clinical features such as pancytopenia, MonoMAC, and hearing loss (see Genetics). Not all cases of inherited MDS/AML are associated with prior conditions. Consequently, the presence of 'accessory' clinical features may increase suspicion of MDS/AML predisposition, but the absence of accessory phenotypes does not rule out an increased risk for MDS/AML.


Heterozygous variants in DDX41 have been identified in inherited and acquired forms of MDS/AML that are not necessarily associated with preceding clinical symptoms (Polprasert et al. 2015; Lewinsohn et al. 2016). A long latency period is associated with germline DDX41 variants and the average age of disease onset in patients from recent reports is > 60 years (Polprasert et al. 2015; Lewinsohn et al. 2016). The late onset of disease is similar to that found in sporadic cases of MDS/AML and may present a challenge for identifying carriers without previously identified affected family members. Approximately 50% of patients with germline variants in DDX41 acquire additional somatic DDX41 gene variants (Polprasert et al. 2015).

The DDX41 gene encodes an RNA helicase that may function during RNA splicing, though the exact gene function is uncertain. Cell-based assays indicate that loss of DDX41 function results in enhanced cell proliferation suggesting a tumor suppressor role for DDX41 (Polprasert et al. 2015). Pathogenic variants in DDX41 comprise primarily missense variants. Small insertions resulting in aberrant splicing or premature protein termination have also been reported in several patients, and a recurrent p.Asp140Glyfs*2 germline variant, consistent with a loss of protein function, was identified (Polprasert et al. 2015; Lewinsohn et al. 2016; Li et al. 2016).

Clinical Sensitivity - Sequencing with CNV PG-Select

In a recent study, either inherited or acquired DDX41 gene variants were found in 27 out of 1045 patients with myeloid neoplasms; 19 of these patients harbored germline DDX41 variants and ~ half of the 19 patients with germline variants also acquired somatic DDX41 variants (Polprasert et al. 2015).

Testing Strategy

This test provides full coverage of all coding exons of the DDX41 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

This test is designed for detecting germline variants and is not designed specifically for detecting low levels of acquired variants in somatic MDS/AML. Skin fibroblasts are the recommended specimen type for germline testing for MDS/AML; results from peripheral blood or bone marrow may confound interpretation (Nickels et al. 2013). However, when results are needed quickly for patient management decisions, buccal swab or saliva samples may be preferred.

Indications for Test

This test is indicated for families with a history of MDS/AML and for relatives of patients that are compatible bone marrow donors. Identification of germline MDS/AML predisposition variants in patients may also inform clinical management of these disorders and require monitoring for clonal progression.


Official Gene Symbol OMIM ID
DDX41 608170
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Acute Myeloid Leukemia (AML) via the CEBPA Gene
Aplastic Anemia and Myelodysplastic Syndrome via the SRP72 Gene
Li-Fraumeni Syndrome via the TP53 Gene
Thrombocytopenia with Predisposition to Acute Myelogenous Leukemia via the RUNX1 Gene


  • Auerbach A.D. 2009. Mutation Research. 668: 4-10. PubMed ID: 19622403
  • Bannon S.A., DiNardo C.D. 2016. International Journal of Molecular Sciences. 17: N/A. PubMed ID: 27248996
  • Churpek J.E. et al. 2015. Blood. 126: 2484-90. PubMed ID: 26492932
  • Heaney M.L, Golde D.W. 1999. The New England Journal of Medicine. 340: 1649-60. PubMed ID: 10341278
  • Lewinsohn M. et al. 2016. Blood. 127: 1017-23. PubMed ID: 26712909
  • Li R. et al. 2016. Haematologica. 101: e228-31. PubMed ID: 26944477
  • Nickels E.M. et al. 2013. Therapeutic Advances in Hematology. 4: 254-69. PubMed ID: 23926458
  • Owen C. et al. 2008. British Journal of Haematology. 140: 123-32. PubMed ID: 18173751
  • Polprasert C. et al. 2015. Cancer Cell. 27: 658-70. PubMed ID: 25920683


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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