GATA1 Sequencing

Test Background

GATA1 is a transcription factor needed for erythroid and megakaryocyte development. Children with Down syndrome have a 10- to 20-fold increased risk of developing leukemia, particularly AMKL. As many as 10% of infants with Down syndrome present with transient myeloproliferative disorder (TMD), which may be a precursor to AMKL. Sanger sequencing is used to detect GATA1 mutations, which have been found in patients with Down syndrome with AMKL (Wechsler J et al. Nature Genet. 32: 148-152, 2002). Somatic mutations in exon 2 of GATA1 have subsequently been detected in essentially all cases of megakaryoblastic leukemia and transient myeloproliferative disorder (Gurbuxani S. et al. Blood 103: 399-406, 2004; Taub JW et al. Blood 104: 1588-1589, 2004).



About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.

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