General information: The SALSA MLPA
Probemix P100 MYBPC3 is a
research use only (RUO) assay for the detection of deletions or duplications in the
MYBPC3 gene, which is associated with familial hypertrophic cardiomyopathy syndrome.
The
MYBPC3 gene (35 exons) spans ~21.3 kb of genomic DNA and is located on chromosome 11p11.2. The protein encoded by
MYBPC3 is the cardiac isoform of myosin-binding protein C (cMyBP-C), which is exclusively expressed in human heart muscle during development. The cMyBP-C protein is crucial for sarcomere organisation in cardiac muscle tissue and for maintenance of normal cardiac function. Defects in the
MYBPC3 gene account for approximately 20-40% of the cases of familial hypertrophic cardiomyopathy.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1768/.
This SALSA MLPA Probemix is not CE/FDA registered for use in diagnostic procedures. Purchase
of this product includes a limited license for research purposes.
Probemix content: The SALSA MLPA Probemix P100-C2 MYBPC3 contains 43 MLPA probes with amplification products between 130 and 454 nucleotides (nt). This includes 29 probes for the
MYBPC3 gene, one probe for each exon with the exception of exons 8, 10, 11, 14, 16, and 20, and five flanking probes located upstream and downstream of the
MYBPC3 gene. These flanking probes can be useful to estimate the extent of deletions/duplications in the
MYBPC3 gene. In addition, nine reference probes are included and detect nine different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (
www.mlpa.com).
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at
www.mlpa.com.