Fragile X Dx
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and autism, affecting approximately 1 in 4,000 males and 1 in 8,000 females in the United States.1 The disorder is X-linked and is caused by a full mutation expansion (>200 CGG repeats) within the FMR1 gene. Testing for fragile X syndrome and its associated disorders (FXTAS, FXPOI) necessitates the accurate sizing of FMR1 CGG repeats across distinct clinical categories: normal (5-44 repeats), intermediate (45-54 repeats), and premutation (55-200 repeats).
The AmplideX® Fragile X Dx & Carrier Screen Kit is an in vitro diagnostic device intended for carrier testing in adults of reproductive age. Based on Asuragen’s unique, PCR-only approach, the assay reliably amplifies and detects all alleles, including low-level mosaics and full mutations.
SMN
Copy number variations in SMN1 and SMN2 are, respectively, associated with the onset and severity of spinal muscular atrophy (SMA), a debilitating and life-threatening illness of the central nervous system. Carrier screening for SMN 1 and 2 uses the AmplideX® PCR/CE SMN1/2 Plus Kit, which is an in vitro nucleic acid amplification kit for determination of exon 7 copy number and the genotype status of relevant variants in the SMN1 and SMN2 genes. The kit is also designed to detect certain SMN1-to-SMN2 and SMN2-to-SMN1 gene conversions by comparing sequence identity of exon 7 and intron 7. Lastly, two disease modifiers that identify Silent Carrier can be detected (see publication below).
CFTR
For CFTR carrier screening, we use the AmplideX® PCR/CE CFTR Kit* to bring the simplicity and scalability of AmplideX technology to CFTR variant detection. Offering the streamlined detection of 67 pathogenic variants, covering approximately 93%† of the US population, the assay provides the broadest coverage of any commercially available, targeted testing kit. The assay Can deliver genotype results from DNA in just under five hours.
