DNA Analysis
The Targeted qPCR SMA FLEX was designed to screen newborns affected by anterior spinal muscular atrophy (SMA). The device is based on the principle of quantitative polymerase chain reaction (qPCR) and allows the identification of the homozygous mutation in exon 7 of the SMN1 gene.
The Targeted qPCR SMA FLEX is presented in an ideal format to adapt to the quantity of samples to be processed. Indeed, the Master Mix in this device is presented in a vial format to fit to the volume to be tested.
This neonatal screening is performed from a sample of blood dried on 903® or 226 filter paper.
Non-mutated SMN1 gene
The test is divided in two steps:
DNA is obtained from dried blood spot (DBS) via the consecutive addition of two buffers and an incubation step at 95°C.
The extracted sample and the ready-to-use Master Mix are transferred to a plate compatible with the thermocycler. The qPCR amplification step takes approximately 1 hour and can be performed on multiple thermocyclers (Bio-Rad CFX96, ThermoFisher QuantStudio™ 5, Roche LightCycler® 480).
The non-mutated SMN1 allele and the RPP30 reference gene are detected by the FAM and HEX fluorochromes, respectively.
The results can be interpreted as follows:
|
|
FAM |
HEX |
| Healthy or heterozygous patient |
+ |
+ |
|
SMA-affected patient |
- |
+ |
The correct execution of the amplification step is guaranteed by an external positive control made of synthetic DNA which is provided in the kit and recognized by HEX and FAM.
This test is designed to genotype the SMN1 mutation site for newborn screening of Anterior Spinal Muscular Atrophy (SMA) from a blood sample dried on 903® or 226 blotting paper.
Product code: K-MF-480 for 480 determinations
The newborn screening kit for hemoglobinopathy evaluation, Targeted MS/MS Hemo, is a qualitative analytical test for newborn screening for hemoglobin (Hb)-related conditions such as sickle cell disease. This test is based on the detection by mass spectrometry of peptides generated during the digestion of normal Hb and/or variants (HbA, HbA2, HbC, HbDPunjab/Los Angeles, HbE, HbF, HbOArab and HbS) of the patient.
The Targeted qPCR SMA uses the quantitative polymerase chain reaction to genotype the anterior spinal muscular atrophy (SMA) mutation in neonates on a dried blood sample. The test only identifies SMA homozygotes. This qualitative test is dedicated only to spinal muscular atrophy (SMA) newborn screening and is performed on a dried blood sample on 903® or 226 blotted paper. With its microplates pre-filled with MasterMix, this kit reduces the number of manipulations during sample processing.