• Test code: 05316
  • 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

Invitae GATA1-Related X-Linked Cytopenia Test

Test description

This test analyzes GATA1, a gene associated with GATA1-related cytopenia, which is characterized by mild-to-severe thrombocytopenia and anemia.

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.

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Primary panel (1 gene)

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.

  • GATA1-related X-linked cytopenia

GATA1-related cytopenia is associated with mild-to-severe thrombocytopenia and anemia and may include platelet dysfunction, neutropenia, beta-thalassemia, and congenital erythropoietic porphyria. Onset is typically in infancy as a bleeding disorder (easy bruising, mucosal bleeding, mild-to-severe anemia). Severe cases may present with hemorrhage or prenatally as hydrops fetalis. GATA1-related cytopenia is X-linked and generally affects males, but females may have mild-to-moderate symptoms.

GATA1 pathogenic variants have also been reported in individuals with Diamond-Blackfan anemia and congenital erythropoietic porphyria.

Most individuals with GATA1-related cytopenia are expected to have a pathogenic variant of GATA1.

GATA1-related X-Linked cytopenia is inherited in an X-linked manner.

The prevalence of GATA1-related X-Linked cytopenia is unknown. It may be under-recognized among individuals with mild manifestations such as idiopathic thrombocytopenia.

GATA1 testing may be considered in patients who present with macrothrombocytopenia or anemia—particularly males in infancy. The family history may be consistent with X-linked inheritance.

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, but 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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
GATA1 NM_002049.3