RealSure SMA DTekt کیت تشخیص ناقلین SMA - با استفاده از فناوری RealTime PCR و روش Taqman probe که بر اساس تعیین تعداد نسخه های اگزون ۷ ژن SMN1 عمل میکند
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™RealSure SMA DTekt

Cat. No: KBC-110408

Real-time PCR Kit for Rapid Detection of SMA Carriers

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Description

SMA (Spinal Muscular Atrophy) is the most common neuromuscular disorder affecting infants and toddlers. It is estimated that the carrier frequency of this disease could reach 1 in 25, although the global estimate is 1 in 40-60. SMA is caused by mutations in the SMN1 gene located on chromosome 5q. Various mutations in SMN1 play a role in disease pathogenesis, with the most common being exon 7 deletion or exon 7 conversion, which encompasses 97% of carriers. The RealSure SMA DTekt™ kit enables the quantitative detection of exon 7 deletion in the SMN1 gene through a multiplex TaqMan-based reaction. As a result, more than 97% of carriers can be accurately identified using the RealSure SMA DTekt™ kit. This method is cheaper, much faster, and more reliable compared to conventional screening methods such as MLPA or PCR/CE, and does not require expensive equipment. Result interpretation is also quick and easy.

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Features
  • Features:
    • Detection kit for SMA carrier individuals using Real-Time PCR technology (TaqMan probe method) based on quantitative determination of exon 7 gene copies of SMN1.
    • Identification of carriers with exon 7 deletion and those with conversion in the SMN1 gene in 5qSMA disease (equivalent to over 98% of SMA cases).
    • Usable with DNA extracted from blood and other tissues.
    • Compatible with Real-time PCR instruments.
Applications

The RealSure SMA DTekt™ kit is intended for the following purposes:

  • Detection of carriers with SMN1 gene deletion.
  • Detection of carriers with exon 7 gene deletion in non-carriers.
  • Detection of carriers with Gene Conversion or point mutation 840C>T, which results in the conversion of SMN1 to SMN2 gene.
    • This kit can be used for carrier screening and for families with SMA patients.
    • It can be used as an alternative to MLPA method for diagnosing patients with high mutation rates.

The RealSure SMA DTekt™ kit may not be useful for the following cases:

  • Individuals with point mutations other than 840C>T conversion.
  • Individuals with simultaneous presence of two copies of the SMN1 gene on one chromosome and absence of the gene on the other chromosome, also known as simultaneous deletion and duplication or del/dup.
  • Individuals or patients whose disease is not related to the SMN1 gene or 5q SMA.

For more information about the RealSure SMA DTekt™ please read the User Manual.

Documents

User Manual

Quick Protocol

MSDS

Analysis Assistant