Trita® SMA Diagnostic Kit

Catalog number

SM-V223.25

SM- V223.50

SM- V223.100

Application area

The Trita® SMA Diagnostic Kit product is designed and manufactured to identify the copy number of SMN1 and SMN2 gene that are responsible for the onset of Muscular-Spinal Dystrophy (SMA). The product utilizes DNA that has been extracted from human whole blood samples and operates on the principle of Multiple Fluorescent Probe Amplification (MFPA), a molecular technique. Therefore, it enables the identification and diagnosis of SMA disease.

product performance principle

The Trita® SMA Diagnostic Kit has been developed and produced with the purpose of identifying and determine the copy number of SMN1 and SMN2 gens. Furthermore, it possesses the capability to identify carriers or individuals suspected of harboring the genetic disorder known as SMA. The biological sample required for this kit is human whole blood, which can be obtained from either adults or infants. The kit’s functionality is based on a novel molecular technique known as Multiple Fluorescent Probe Amplification (MFPA). This method represents an innovative advancement in the common molecular methods employed for SMA diagnosis.

Precise diagnosis of SMA carriers or disease manifestation is facilitated through the careful selection of gene regions within the kit. In terms of time, efficiency, and expenditure, this method is highly suitable, speedy, and cost-effective. The selection of gene regions, as well as the design of primers and probes, has been executed in a highly specific manner, taking into consideration the absence of polymorphism in the probe connection region of the genome.

The Trita® SMA Diagnostic Kit product is able to examine four different areas and has the 6-FAM^TM fluorescent dye labeled on the probes and primers. Specifically amplifying the SMN1 and SMN2 genes in two reactions are achieved by the fluorescent probes and primers in the MFPA molecular reaction. The resulting reaction product is then mixed together and can be read and identified in one run of Capillary electrophoresis in the genetic analyzer. The product’s single color eliminates the need for the calibration matrix of the genetic analyzer. The final analysis and interpretation of the results are performed using the GeneMarker® software and the results analysis flowchart. In general, the performance of this product in detecting carriers and SMA disease is based on three main steps that have been validated.

DNA extraction from biological sample

Validation of this product has been done using human whole blood samples obtained from either adult individuals or infants. Furthermore, this product has been specifically designed to enhance efficiency when utilized in conjunction with DNA extraction kits, such as the QIAamp® DSP DNA Blood Mini Kit, manufactured by Qiagen, Germany.

The Molecular reaction known as Multiple Fluorescent Probe Amplification (MFPA) consists of a series of steps:

• Denaturation
• Probe Hybridization
• Amplification of desired gene markers using the PCR method (PCR Amplification)

The optimization of this product has been carried out using the Applied Biosystem (Veriti) and BioRad (T 100) thermocyclers.

Fragment Analysis comprises of several steps:

• • Fragment Separation by Capillary Electrophoresis
  • Data analysis and interpretation of results using GeneMarker® software

The PCR product obtained from this kit is compatible with Genetic Analyzer models ABI 3130 (xL) and ABI 3500 (xL) with capillary sizes of 30, 50 or 80 cm. The GeneMarker® software can be used to analyze and interpret the results of capillary electrophoresis using the panel kit (sent by the company to users).

Main features of Trita® SMA Diagnostic Kit

• A perfect aid in the screening of carriers (Heterozygote) and diagnosis of spinal muscular atrophy (SMA).
• Ability to differentiate between 0, 1, 2, 3 and ≥ 4 copy numbers for both SMN1 and SMN2.
• Based on Multiple Fluorescent Probe Amplification (MFPA®) and Fragment analysis methods.
• High sensitivity and specificity Similar to that of MLPA but even faster and more economical.
• DNA-to-Data in less than four hours through a single PCR reaction and capillary electrophoresis.
• Manufactured within the quality management systems (ISO 13485:2016 and ISO 9001:2015)

Composition of Trita® SMA Diagnostic Kit

Trita® SMA Diagnostic Kit is available in 25, 50, and 100 test models. The table below displays the kit’s components and their values in various models of this product.

Technical specification of Trita® SMA Diagnostic Kit