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, 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.

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