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Thrombosis and Thalassemia Diseases
Detection and identification of multiple single nucleotide polymorphisms (SNPs)

As many as 900,000 people could be affected by thrombosis each year in the United States.1


Sudden death is the first symptom in about 25% of people who have a pulmonary embolism.1

Beta thalassemia major is the most severe form of thalassemia. Recent immigration into the United States has led to a significant increase in thalassemia incidents.1

Product Information
  • Novaplex™ II Thrombosis SNP Panel Assay

    Select the assays you are interested in and a Seegene representative will contact you to complete your order.
    • Factor V leiden: H1299R
    • Factor V leiden : Y1702C
    • MTHFR: C677T
    • MTHFR: A1298C
    • Factor V leiden : R506Q
    • Factor II: G20210A
  • Novaplex™ II β-Thalassemia Assay

    Select the assays you are interested in and a Seegene representative will contact you to complete your order.
    • IVS 1-1(G>T)
    • 619bp deletion
    • IVS 1-5(G>C)
    • CD15(G>A)
    • FS41/42(-TTCT)
    • HbS, FS8/9(+G)
    • -90(C>T)
    • CD16(-C)
    • HbE, CD15(-T)
    • CD30(G>C)
    • -28(A>G)

Whole Blood

Compatible Instrumentation

Automated Extraction & PCR Setup
Seegene NIMBUS
Seegene STARlet

Real-time PCR
CFX96™ Real-time PCR Detection System (Bio-Rad)
CFX96™ Dx (Bio-Rad)
CFX96™ Touch (Bio-Rad)
CFX96™ Opus (Bio-Rad)

Seegene Viewer Software

  • Quick and easy data analysis and interpretation
  • Interface specialized for multiplex testing
Key Features
  • Simultaneously detect multiple SNP targets with a single test
  • Short TAT (4 hours) from extraction to final results
  • Broad range of SNP targets  
  • Informative data with individual Ct values for each analyte
Understanding Thrombosis and Thalassemia

Thrombosis is the formation of blood clots inside a blood vessel, obstructing the blood flow of the cardiovascular system. Several thrombosis-associated single nucleotide polymorphisms (SNPs) have been identified and reported to increase the risk of venous thrombosis significantly. These 3 SNPs in the Factor V leiden gene (R506Q, H1299R and Y1702C) are the most important genetic risk factors for inherited thrombophilia. Two other SNPs in the MTHFR gene (C677T and A1298C) cause reduction of MTHFR enzyme activity and heterozygosity as a risk factor for venous thrombosis. 2

Thalassemia is a genetically inherited group of blood disorders. A person who has thalassemia makes fewer healthy red blood cells than normal, leading to reduced hemoglobin production. This leads to fewer healthy red blood cells traveling in the bloodstream and may cause a person to feel tired, weak, or experience shortness of breath and can lead to organ damage and death.3  

The thalassemias are a group of hemoglobinopathies in which the normal ratio of alpha globin to beta globin production is disrupted due to a genetic variant in one or more alpha or beta globin genes. This abnormal alpha chain to beta chain ratio causes the unpaired chains to precipitate, leading to destruction of red blood cell (RBC) precursors in the bone marrow (ineffective erythropoiesis) and in the circulation (hemolysis). Individuals with thalassemia have variable degrees of anemia and extramedullary hematopoiesis, which in turn can cause bone changes, impaired growth, and iron overload.

Multiplex Real- Time PCR Assays:

The Novaplex™ II Thrombosis SNP Panel Assay* is a multiplex real-time PCR assay that simultaneously genotypes six thrombosis-associating single nucleotide polymorphisms (SNPs): Factor V Leiden gene (R506Q, H1299R, Y1702C), Prothrombin gene mutation (G20210A), Methylenetetrahydrofolate reductase (MTHFR) (C677T, A1298C).

The Novaplex™ II β-Thalassemia SNP Panel Assay* detects multiple SNPs and other mutations related to Thalassemia including IVS 1-1(G>T), 619bp deletion, IVS 1-5(G>C), CD15(G>A), FS41/42(-TTCT), HbS, FS8/9(+G), -90(C>T), CD16(-C), HbE, CD15(-T), CD30(G>C) and -28(A>G) which reduces hands-on time and increases your lab’s processing efficiency.

*Novaplex™ Assays are For Research Use Only. Not for Use in Diagnostic Procedures.

1 Gupta AK, Jain HC, Lynde CW, Macdonald P, Cooper EA, Summerbell RC. Prevalence and epidemiology of onychomycosis in patients visiting physicians’ offices: a multicenter Canadian survey of 15,000 patients. J Am Acad Dermatol. 2000 Aug;43(2 Pt 1):244-8.
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