Invitae Familial Acute Myeloid Leukemia with Mutated CEBPA Test

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  • Test code: 01744
  • 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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Test description

This test analyzes CEBPA, a gene that is associated with familial acute myeloid leukemia (AML) syndrome. This condition is an autosomal dominant myelodysplastic/acute leukemia predisposition syndrome that is highly penetrant for the development of AML. Age of onset is variable but reportedly in the range of early childhood through late adulthood.

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)

CEBPA

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 acute myeloid leukemia (AML) with mutated CEBPA

Familial acute myeloid leukemia (AML) with mutated CEBPA is a hematologic malignancy predisposition syndrome that is characterized by isolated AML in the presence of a family history of AML. This condition has near-complete penetrance: Carriers of a pathogenic variant develop AML at some point in their lifetime. Age of onset is variable, even within the same family; some affected individuals present in early childhood and others in adulthood.

Germline mutations in CEBPA may be found in combination with a somatic mutation. An estimated 7%–11% of individuals with AML who have an acquired CEBPA mutation detected by tumor profiling of leukemic cells, will have familial AML with biallelic mutations in CEBPA.

Individuals who carry a germline pathogenic variant in CEBPA have a high risk of developing acute leukemia.

Familial acute myeloid leukemia with mutated CEBPA is inherited in an autosomal dominant pattern.

The prevalence of familial AML with mutated CEBPA is unknown.

Testing for germline CEBPA mutations is recommended for:

  • individuals with MDS, AML, or ALL and a family history of MDS, AML, ALL, or aplastic anemia
  • individuals with early onset MDS or AML
  • individuals with AML, biallelic CEBPA pathogenic variants detected in leukemic cells, and a family history of AML
  • individuals with a known pathogenic familial variant in CEBPA

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 is 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 is 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
CEBPA NM_004364.4