Invitae Fanconi Anemia Panel

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  • Test code: 05311
  • 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

The Invitae Fanconi Anemia test analyzes 17 genes associated with Fanconi anemia (FA), which is characterized by progressive bone marrow failure, physical abnormalities, and increased risk of malignancy.

Genetic testing of these genes may establish or confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also allow for 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 that is not derived from blood (such as skin biopsy) is warranted. While we do not accept this sample type directly, we can accept DNA derived from skin or muscle, though deletion/duplication analysis is not guaranteed for DNA samples because the success rate varies based on sample quality. Please see our Specimen requirements page for more details.

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Primary panel (17 genes)

BRCA2 BRIP1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM PALB2 RAD51C SLX4 XRCC2

  • Fanconi anemia (FA)

Fanconi anemia (FA) is a multisystemic disorder primarily characterized by progressive bone marrow failure leading to low blood cell counts (pancytopenia). Associated symptoms may include, anemia due to lack of red blood cells (erythropenia), immunodeficiency due to lack of white blood cells (leukopenia), and failure to clot due to lack of platelets (thrombocytopenia). Affected individuals also typically present with a variable spectrum of physical abnormalities and exhibit developmental delay. FA predisposes individuals to developing several types of cancers, including acute myeloid leukemia and solid tumors of the head and neck, esophagus, and genital tract.

Pathogenic variants in this gene list account for more than 95% of reported Fanconi anemia cases. The most common genes are FANCA, FANCC, and FANCG, and pathogenic variants in these genes cumulatively represent approximately 85-90% of FA patients. The BRCA2, BRIP1, FANCB, FANCD2, FANCE, and FANCF genes combined account for 10%, while the remaining FA genes represent less than 5% of cases.

FA is predominantly inherited in an autosomal recessive manner except for pathogenic variants in FANCB, which are inherited in an X-linked manner.

The major clinical features of FA include physical abnormalities, progressive bone marrow failure, and cancer susceptibility. However, there is variable expressivity as some individuals with FA do not present with any physical abnormalities or bone marrow failure.

  • Physical abnormalities present in 60%-75% of affected individuals.
  • Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. By age 40 to 50 years, the estimated cumulative incidence of bone marrow failure is 90%.
  • The incidence of hematologic malignancies, primarily acute myeloid leukemia, is 10%-30%. The incidence of solid tumors, particularly of the head and neck, skin, GI tract, and genital tract, is 25%-30%.

The prevalence of FA is approximately 1 in 100,000 to 1 in 200,000 live births. The carrier frequency is estimated to be 1 in 181, with a higher rate in some ethnic backgrounds.

Testing for FA should be considered in:

  • individuals with any clinical features of FA
  • anyone developing aplastic anemia at any age
  • individuals who develop cancers of the head and neck, gynecologic system or gastrointestinal system (squamous cell carcinoma or adenocarcinoma) at an early age
  • individuals with family history of FA

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. However, deletion/duplication analysis is not guaranteed for gDNA samples, as success rate varies based on sample quality. Please see our Sample requirements page for more details. for more detail.

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 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. However, deletion/duplication analysis is not guaranteed for gDNA samples, as success rate varies based on sample quality. Please see our Sample requirements page for more details. for more detail.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
BRCA2* NM_000059.3
BRIP1 NM_032043.2
ERCC4 NM_005236.2
FANCA NM_000135.2
FANCB NM_001018113.1
FANCC NM_000136.2
FANCD2* NM_033084.3
FANCE NM_021922.2
FANCF NM_022725.3
FANCG NM_004629.1
FANCI NM_001113378.1
FANCL NM_018062.3
FANCM NM_020937.2
PALB2 NM_024675.3
RAD51C NM_058216.2
SLX4 NM_032444.2
XRCC2 NM_005431.1

BRCA2: Sequence analysis includes +/- 20 base pairs of adjacent intronic sequence.
FANCD2: Deletion/duplication analysis is not offered for exons 14-17.