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Thrombocytopenia with Predisposition to Acute Myelogenous Leukemia via the RUNX1 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
RUNX1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8607RUNX181479 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

Familial thrombocytopenia with predisposition to acute myelogenous leukemia (FT-AML) is characterized by moderately low platelet counts present from birth (Balduini et al. Haematologica 87:860-880, 2002; Geddis and Kaushansky. Curr Opin Pediatr 16:15-22, 2004). Platelets are of normal size, but patients often have bleeding problems due to small platelet numbers. Although firm numbers are not available from published pedigrees, it appears that greater than one third of affected family members will go on to develop leukemia.


FT-AML is an autosomal dominant disorder caused by variants in the RUNX1 gene (also known as CBFA2 or AML1). RUNX1 encodes a transcription factor involved in hematopoiesis. Several causative missense, nonsense, and splicing variants as well as small insertions and deletions have been reported (Song et al. Nat Genet 23:166-175, 1999; Buijs et al. Blood 98:2856-2858, 2001; Michaud et al. Blood 99:1364-1372, 2002). Several large, multi-exon deletions have also been reported (Song et al. 1999; Ripperger et al. Haematologica 96:1892, 2011; Click et al. Am J Med Genet A 155:1673, 2011).

Clinical Sensitivity - Sequencing with CNV PG-Select

Sensitivity of this test is unknown, although affected members of clear, autosomal dominant pedigrees should have a relatively high rate of positive test results.

Testing Strategy

This test provides full coverage of all coding exons of the RUNX1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with symptoms consistent with FT-AML. Positive family history increases the indication for the test.


Official Gene Symbol OMIM ID
RUNX1 151385
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Acute Myeloid Leukemia (AML) via the CEBPA Gene
Bleeding Disorders Panel
Thrombocytopenia Panel


  • Balduini, C. L., et.al. (2002). "Inherited thrombocytopenias: from genes to therapy." Haematologica 87(8): 860-80. PubMed ID: 12161364
  • Buijs, A., et.al. (2001). "A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies." Blood 98(9): 2856-8. PubMed ID: 11675361
  • Click, E.S. et al. (2011). "Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene". Am J Med Genet A 155A(7):1673-9. PubMed ID: 21626672
  • Geddis, A. E., Kaushansky, K. (2004). "Inherited thrombocytopenias: toward a molecular understanding of disorders of platelet production." Curr Opin Pediatr 16(1): 15-22. PubMed ID: 14758109
  • Michaud, J., et.al. (2002). "In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis." Blood 99(4): 1364-72. PubMed ID: 11830488
  • Ripperger, T. et al. (2011). "Managing individuals with propensity to myeloid malignancies due to germline RUNX1 deficiency". Haematologica 96(12):1892-4. PubMed ID: 21880633
  • Song, W. J., et.al. (1999). "Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia." Nat Genet 23(2): 166-75. PubMed ID: 10508512


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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2) Select Additional Test Options

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