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P341 PKHD1 mix 1

SALSA MLPA Probemix P341 PKHD1 mix 1 and P342 PKHD1 mix 2 detect copy number variations in the PKHD1 gene.

Specifications

Contents: P341 PKHD1 mix 1 and P342 PKHD1 mix 2 together contain 88 MLPA probes, including 70 probes for PKHD1.

Tissue: human genomic DNA.

Application: research on autosomal recessive polycystic kidney disease (ARPKD).

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

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List Prices Documentation

Key related products

P342 PKHD1 mix 2

Contains probes for the PKHD1 gene, responsible for the recessive form of PKD.

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General information

The SALSA MLPA Probemix P341/P342 PKHD1 is a research use only (RUO) assay for the detection of deletions or duplications in the PKHD1 gene, which is associated with autosomal recessive polycystic kidney disease (ARPKD).

ARPKD is a hereditary and severe form of polycystic kidney disease, affecting the kidneys and the hepatic biliary tract. The clinical spectrum is widely variable, with most cases presenting during infancy. The fetal phenotypic features classically include enlarged and echogenic kidneys, as well as oligohydramnios secondary to a poor urine output. Up to 50% of the affected neonates die shortly after birth, as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. In the subset that survives the perinatal period, morbidity and mortality are mainly related to severe systemic hypertension, renal insufficiency, and portal hypertension due to portal-tract fibrosis. Defects in the PKHD1 gene are the cause of all typical forms of ARPKD.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1326/.

Regulatory status

SALSA MLPA Probemix P341 PKHD1 mix 1 is for research use only (RUO) in all territories.

Product documentation

Version B4

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P341-025R
SALSA MLPA Probemix P341 PKHD1 mix 1 – 25 rxn
MLPA
€ 286.00
P341-050R
SALSA MLPA Probemix P341 PKHD1 mix 1 – 50 rxn
MLPA
€ 560.00
P341-100R
SALSA MLPA Probemix P341 PKHD1 mix 1 – 100 rxn
MLPA
€ 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)
MLPA MS-MLPA
€ 348.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 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.

More information about ordering & prices

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.

Resources

General MLPA resources

MLPA education

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