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SALSA MLPA Probemix P216 Growth Hormone Deficiency mix -1

Growth Hormone Deficiency (GHD)

Region: GH1, LHX4, POU1F1, HESX1, PROP1, GHRHR, LHX3

General information: The SALSA MLPA Probemix P216 Growth Hormone Deficiency mix-1 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/.

Probemix content: The SALSA MLPA Probemix P216-B2 Growth Hormone Deficiency mix-1 contains 49 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, seven probes for the LHX3 gene, six probes for the LHX4 gene, and finally four probes for the HESX1 gene (Tables 2a-g). 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.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.

Order Items

Probemix

Item no.
Description
Technology
Price
P216-025R
SALSA MLPA Probemix P216 Growth Hormone Deficiency mix -1 – 25 rxn
€ 243.00
P216-050R
SALSA MLPA Probemix P216 Growth Hormone Deficiency mix -1 – 50 rxn
€ 486.00
P216-100R
SALSA MLPA Probemix P216 Growth Hormone Deficiency mix -1 – 100 rxn
€ 972.00

Required Reagents

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

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