- PRODUCT DESCRIPTION
+ Spinal muscular atrophy (SMA) is characterized by degeneration of the alpha motor neurons of the spinal cord anterior horn cells, leading to progressive proximal muscle weakness and atrophy.
+ The carrier frequency of SMA from 1/20 to 1/60. IntRaFast-Q SMA Screening Kit detects the exon 7 & 8 deletion and C/T substitution at nucleotide 840 of exon 7 in the SMN1 gene
+ Diagnose the carrier and homozygous types by Quantitative Real Time PCR (qPCR) from blood and dried blood spots (DBS).
+ The kit has % 100 sensitivity and % 100 specificity for the detection of above mentioned targets in homozygous and carrier types.
- PRINCIPLE OF THE SYSTEM
+ Test uses 5’ Nuclease Assay.
+ During the PCR reaction, the DNA polymerase cleaves the probe at the 5’ end and separates the reporter dye from the quencer dye only when the probe hybridizes perfectly to the target DNA.
+ This cleavage results in the fluorescent signal which is monitored by Real-Time PCR detection system.
+ An increase in the fluorescent signal (Ct) is proportional to the amount of the specific PCR product.
+ The system is based on “Intelligent Ratio (IR)” between reference and target genes quantifications.
+ IR values may vary according to Bio-Rad CFX96 Real Time PCR devices.
+ Therefore IntRa- Q Software should be adjusted to the Bio-Rad CFX96 Real Time PCR device during system setup (see Validation of device and Data Analysis sections).
