DNA Analysis
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.
Non-mutated SMN1 allele
The assay is divided into two steps: a first extraction and lysis step and a second DNA amplification step via qPCR.
The extraction and lysis of the sample on blotting paper is done through the addition of two buffers and a 96-well microplate incubation step.
The extracted sample is then transferred into a BioRad microplate, pre-filled with Master Mix, provided in the kit.
The amplification step is performed using the BioRad CFX96 thermocycler and the qPCR program takes approximately 1 hour. The FAM and HEX fluorochromes are used for detection of the non-mutated SMN1 allele and the “home gene” RPP30, respectively.
The sample of a healthy or heterozygous patient will produce a HEX and FAM signal and a homozygous sick patient will produce a HEX signal only.
A synthetic DNA control, recognized by HEX and FAM, is provided in the kit to ensure the proper functioning of the amplification step.
This test is for spinal muscular atrophy (SMA) newborn screening and is performed using dried blood samples on 903® or 226 type blotted paper.
Product code : K-LT-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.