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P160 STS

SALSA MLPA Probemix P160 STS detects copy number variations in the STS, NLGN4X and ANOS1 (KAL1) genes.

Specifications

Contents: 35 MLPA probes, including 13 probes for STS, 3 probes for ANOS1, and 5 probes for NLGN4X.

Tissue: human genomic DNA.

Application: research on X-linked ichthyosis.

For research use only (RUO). Not for use in diagnostics.

General information

The SALSA MLPA Probemix P160 STS is a research use only (RUO) assay for the detection of deletions or duplications in the STS gene, which is associated with X-linked ichthyosis. This probemix can also be used to detect STS deletions or duplications that extend into the neighbouring ANOS1 (KAL1) and NLGN4X genes.

X-linked ichthyosis is a skin disorder characterised by dark brown and black, polygonal scales particularly found on the trunk, neck and extremities, which are caused by a deficiency of the steroid sulfatase (STS) enzyme. Placental steroid sulfatase deficiency occurs in pregnant mothers of affected males and is associated with low oestrogen production, failed induction of and prolonged labour. In up to 90% of patients, X-linked ichthyosis is caused by complete deletion of the STS gene located on chromosome Xp22.31 (Hernández‐Martín et al. 1999), but partial STS gene deletions and point mutations have also been described.

Larger deletions at Xp22.31 might include neighbouring genes such as ANOS1 or NLGN4X. Loss of the ANOS1 gene causes 5-10% of Kallmann syndrome, which is characterised by impaired sense of smell (anosmia/hyposmia) and delayed or absent puberty due to hypogonadotropic hypogonadism. Copy number variations and mutations in the NLGN4X gene have been associated with X-linked intellectual disability and autism.

Regulatory status

SALSA MLPA Probemix P160 STS is for research use only (RUO) in all territories.

List prices

Product

Item no.
Description
Technology
Price
P160-025R
SALSA MLPA Probemix P160 STS – 25 rxn
€ 286.00
P160-050R
SALSA MLPA Probemix P160 STS – 50 rxn
€ 560.00
P160-100R
SALSA MLPA Probemix P160 STS – 100 rxn
€ 1096.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
€ 348.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
€ 1600.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
€ 6152.00

Price details & ordering

The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.

Positive samples

Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.

We have no information about specific commercially available positive samples that can be used with this product.

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