General information
The SALSA MLPA
Probemix P216 Growth Hormone Deficiency is a
research use only (RUO) assay for the detection of deletions or duplications in the
GH1,
POU1F1,
PROP1,
GHRHR,
LHX3,
LHX4, and
HESX1 genes, which are associated with Growth Hormone Deficiency (GHD).
GHD is characterised by short stature, delayed growth velocity, and delayed skeletal maturation. Idiopathic growth hormone deficiency is the most common cause of GHD in children.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1347/.
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 P216-C1 Growth Hormone Deficiency contains 48 MLPA probes with amplification products between 130 and 505 nucleotides (nt). This includes four probes for the
GH1 gene, five probes for the
POU1F1 gene, three probes for the
PROP1 gene, 12 probes for the
GHRHR gene, six probes for the
LHX3 gene, six probes for the
LHX4 gene, and finally four probes for the
HESX1 gene. In addition, eight reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (
www.mrcholland.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.mrcholland.com.