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  • Test code: 01734
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit
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Invitae Familial Platelet Disorder with Propensity to Myeloid Malignancy Test

Test description

This test analyzes RUNX1, a gene associated with familial platelet disorder with propensity to myeloid malignancy (FPD/AML). This is a highly variable, autosomal dominant condition that is characterized by a mild-to-moderate bleeding tendency due to platelet defects and, in some cases, thrombocytopenia.

Genetic testing of this gene may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

If the patient has undergone a bone marrow transplant prior to genetic testing or currently has a hematological malignancy with actively circulating tumor cells, testing a sample type not derived from blood (such as skin biopsy) is warranted. While we do not accept this sample type directly, we can accept gDNA derived from skin or muscle, though deletion/duplication analysis is not guaranteed for gDNA samples because the success rate varies based on sample quality. Please see our Sample requirements page for more details.

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Primary panel (1 gene)

RUNX1

Alternative tests to consider

These genes can also be ordered as part of broader panels. Depending on the individual’s clinical and family history, one of these panels may be appropriate and can be ordered at no additional charge.

  • familial platelet disorder with propensity to myeloid malignancy (FPD/AML)

Familial platelet disorder with propensity to myeloid malignancy (FPD/AML) is characterized by early onset mild-to-moderate thrombocytopenia and a family history of MDS/AML. This condition is highly variable, even among affected individuals in the same family.

Not all carriers of a RUNX1 pathogenic variant have a platelet disorder or present with abnormal platelet aggregation studies—even those affected with MDS/AML. Bleeding and abnormal platelet aggregation are not necessary for a diagnosis of FPD/AML. Patients may present with MDS/AML at any age. The median age of onset is 33 years, with a wide range that extends from childhood into late adulthood. The risk of MDS/AML is 35%–40% in carriers of a pathogenic variant.

RUNX1 is the only known gene associated with FPD/AML.

FPD/AML is inherited in an autosomal dominant pattern.

The incidence of FPD/AML is unknown.

Testing for germline RUNX1 pathogenic variants is recommended for individuals with MDS or AML, with or without a history of low blood counts or bleeding disorders, who have:

  • a family history of MDS/AML
  • a family history of thrombocytopenia or bleeding disorders
  • a known familial mutation in RUNX1

If the patient has undergone a bone marrow transplant prior to genetic testing or currently has a hematological malignancy with actively circulating tumor cells, testing a sample type that has not derived from blood (such as skin biopsy) is warranted. While we do not accept this sample type directly, we can accept gDNA derived from skin or muscle, though deletion/duplication analysis is not guaranteed for gDNA samples because the success rate varies based on sample quality. Please see our Sample requirements page for more details.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Assay notes

If the patient has undergone a bone marrow transplant prior to genetic testing or currently has a hematological malignancy with actively circulating tumor cells, testing a sample type that has not derived from blood (such as skin biopsy) is warranted. While we do not accept this sample type directly, we can accept gDNA derived from skin or muscle, though deletion/duplication analysis is not guaranteed for gDNA samples because the success rate varies based on sample quality. Please see our Sample requirements page for more details.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
RUNX1 NM_001754.4