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Thrombotic Thrombocytopenic Purpura (TTP) via the ADAMTS13 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
ADAMTS13 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11071ADAMTS1381479 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

Thrombotic thrombocytopenic purpura (TTP) (OMIM 274150), often described as Upshaw-Schulman syndrome (USS), is a rare blood condition characterized by frequent relapses of fever, hemolytic anemia, thrombocytopenic purpura, neurologic symptoms, renal disease, and possible organ failure. TTP is caused by variants in the ADAMTS13 gene (Levy et al. Nature 413:488-494, 2001) and differs from the more common autoimmune disease known as idiopathic or immune thrombocytopenic purpura (ITP). TTP preferentially affects the microvasculature of the brain and kidneys. Initial symptoms may include hypertension, headache, numbness or transient paralysis, confusion, and difficulty speaking. In a related disorder, hemolytic uremic syndrome (HUS), neurologic symptoms are less common, while renal failure is more predominant. In unaffected individuals, large multimers of the platelet-adhesive protein von Willebrand factor (vWF) are secreted from platelet stores into blood plasma where they are cleaved by the metalloprotease ADAMTS13 during a key step of thrombosis (Furlan et al. Blood 87:4223-4234, 1996). In patients with TTP, cleavage of vWF multimers is diminished or absent due to either loss-of-function variants in ADAMTS13 or to lack of ADAMTS13 secretion from storage granules in platelets and megakaryocytes (Mannucci et al. Blood 74:978-983, 1989; Kokame et al. Proc. Natl. Acad. Sci. U.S.A. 99:11902-11907, 2002). Deficiencies in vWF cleavage result in the formation of damaging microvascular thrombi, comprising platelets and vWF multimers, that cause erythrocyte lysis and other symptoms of TTP (Moake et al. N. Engl. J. Med. 307:1432-1435, 1982). TTP affects males and females equally and may present at any age. Without preventative treatment, episodes of TTP typically recur every 21 to 28 days and are often precipitated by other stressors including infection, surgery, or pregnancy (Furlan and Lämmle. Best Pract Res Clin Haematol. 14:437-454, 2001).


Variants in ADAMTS13 are inherited in an autosomal recessive manner, although individuals heterozygous for pathogenic variants often display mild deficiencies of ADAMTS13 activity (Levy et al. Nature 413:488-494, 2001; Kokame et al. Proc. Natl. Acad. Sci. U.S.A. 99:11902-11907, 2002). Causative variants in ADAMTS13 have been identified throughout the coding sequence. No predominant ADAMTS13 variants have been identified, but the phenotypes resulting from secretion-deficient ADAMTS13 variants appear to be more severe than the phenotypes resulting from secreted ADAMTS13 with diminished function (Kokame et al. Proc. Natl. Acad. Sci. U.S.A. 99:11902-11907, 2002).

Clinical Sensitivity - Sequencing with CNV PGxome

Variants in ADAMTS13 account for nearly 100% of cases of congenital TTP.

Testing Strategy

This test provides full coverage of all coding exons of the ADAMTS13 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

Patients with clinical features of TTP or a family history of TTP or hemolytic uremic syndrome. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ADAMTS13.


Official Gene Symbol OMIM ID
ADAMTS13 604134
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Thrombotic Thrombocytopenic Purpura AR 274150


  • Furlan, M., et.al. (1996). "Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis." Blood 87(10): 4223-34. PubMed ID: 8639781
  • Furlan, M., Lammle, B. (2001). "Aetiology and pathogenesis of thrombotic thrombocytopenic purpura and haemolytic uraemic syndrome: the role of von Willebrand factor-cleaving protease." Best Pract Res Clin Haematol 14(2): 437-54. PubMed ID: 11686108
  • Kokame, K., et.al. (2002). "Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity." Proc Natl Acad Sci U S A 99(18): 11902-7. PubMed ID: 12181489
  • Levy GG. et al. 2001. Nature. 413: 488-94. PubMed ID: 11586351
  • Mannucci, P. M., et.al. (1989). "Enhanced proteolysis of plasma von Willebrand factor in thrombotic thrombocytopenic purpura and the hemolytic uremic syndrome." Blood 74(3): 978-83. PubMed ID: 2665869
  • Moake, J. L., et.al. (1982). "Unusually large plasma factor VIII:von Willebrand factor multimers in chronic relapsing thrombotic thrombocytopenic purpura." N Engl J Med 307(23): 1432-5. PubMed ID: 6813740


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