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Thrombocytopenia and Related Hematopoietic Disorders via the GATA1 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
GATA1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8945GATA181479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Siwu Peng, PhD

Clinical Features and Genetics

Clinical Features

Germline variants in the GATA1 gene are associated with X-linked thrombocytopenia that may be accompanied by additional clinical manifestations including dyserythropoietic anemia (Nichols et al. 2000. PubMed ID: 107001880), beta-thalassemia (Yu et al. 2002. PubMed ID: 12200364), and anemia with or without neutropenia (Hollanda et al. 2006. PubMed ID: 16783379). Affected males usually have moderate to severe bruising and bleeding, marked thrombocytopenia (10-40/nl), and average to large-sized platelets. Female carriers may show mild symptoms. Unlike X-linked Wiskott-Aldrich Syndrome, eczema and immunodeficiency are absent in GATA1-related X-linked disorders.

Somatic variants in GATA1 are also known to cause transient myeloproliferative disorder (TMD) and megakaryoblastic leukemia in both male and female children with Down syndrome (Hitzler et al. 2003. PubMed ID: 12586620; Mundschau et al. 2003. PubMed ID: 12560215; Rainis et al. 2003. PubMed ID: 12649131; Muntean et al. 2006. PubMed ID: 16840187). Children with Down syndrome have a much greater risk of developing leukemia - up to 20 times the risk for children without Down syndrome. TMD is characterized by an abundance of undifferentiated blast cells in blood and tissues that undergoes spontaneous regression in most cases within a few months, but that progresses to megakaryocytic leukemia in up to 30% of cases (Taub et al. 2002. PubMed ID: 11902744). Variants in GATA1 resulting in premature protein termination and loss of wild type GATA1 protein are the primary type of variant found in Down syndrome patients with TMD.


Pathogenic GATA1 variants for thrombocytopenia are inherited in an X-linked recessive manner. GATA1 encodes a transcription factor involved in differentiation of erythrocytes and megakaryocytes. Nearly all causative variants reported to date have been missense variants involving amino acids 205-218 encoded in exon 4. A few splice site variants have also been reported. Large, multi-exon or whole gene deletions or duplications have not been reported for the GATA1 gene, though variants resulting in production of a truncated GATA1 protein are a frequent cause of TMD in patients with Down syndrome (Hitzler et al. 2003. PubMed ID: 12586620; Mundschau et al. 2003. PubMed ID: 12560215; Rainis et al. 2003. PubMed ID: 12649131; Muntean et al. 2006. PubMed ID: 16840187).

Clinical Sensitivity - Sequencing with CNV PGxome

In a recent study of 272 patients with macrothrombocytopenia, ~48% of patients harbored pathogenic variants in either the MYH9 gene (~ 38%), the Bernard Soulier genes (~ 10%), or the GATA1 gene (< 1%) (Kunishima, Thrombocytopenia, ISTH Webinar 2015: WEB150325). In general, ~ 50% of inherited thrombocytopenias are not yet characterized (Balduini et al. 2013. 23397552).

To date, no large multi-exon or whole gene deletions or duplications have been reported for the GATA1 gene.

Testing Strategy

This test provides full coverage of all coding exons of the GATA1 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for this test are male patients with thrombocytopenia, neutropenia, dyserythropoietic anemia, and an X-linked pattern of inheritance. Female patients with two causative variants in GATA1 are conceivable, but should be very rare and should usually have affected fathers.

At this time, we do not perform testing on transformed cells for cancer diagnosis.


Official Gene Symbol OMIM ID
GATA1 305371
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT



Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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2) Select Additional Test Options

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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