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P481 PRKAR1A-ARMC5

SALSA MLPA Probemix P481 PRKAR1A-ARMC5 detects copy number variations in the PRKAR1A and ARMC5 genes.

Specifications

Contents: 49 MLPA probes, including 14 probes for the PRKAR1A region, and 8 probes for the ARMC5 region.

Tissue: human genomic DNA, including DNA from FFPE tissue.

Application: research on adrenal hyperplasia, and Carney complex (CNC).

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

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General information

The SALSA MLPA Probemix P481 PRKAR1A-ARMC5 is a research use only (RUO) assay for the detection of deletions or duplications in the PRKAR1A and ARMC5 genes, which are associated with adrenal hyperplasia. PRKAR1A is also associated with Carney complex.

PRKAR1A is located on 17q24.2. It encodes a regulatory subunit of the cAMP-dependent protein kinase A (PKA) complex. This subunit inactivates PKA by binding to its catalytic subunits; cAMP causes dissociation of PRKAR1A from the catalytic subunits of PKA, activating them. Phosphorylation mediated by the cAMP/PKA signalling pathway is involved in the regulation of a wide variety of cellular processes. These include metabolism, cell proliferation, differentiation, and apoptosis.

Loss of function mutations in PRKAR1A cause Carney complex (CNC, OMIM 160980), an autosomal dominant syndrome characterized by the onset of multiple types of neoplasia. These include endocrine, cardiac, and cutaneous tumours. Adrenocortical tumours in Carney complex often take the form of multiple small cortical pigmented nodules, similar to those in Cushing syndrome. Additionally, translocations resulting in fusion transcripts of PRKAR1A have been observed in papillary thyroid carcinoma and acute promyelocytic leukaemia (Romei and Elisei 2012).

ARMC5, located on 16p11.2, is a member of the ARM (armadillo/beta-catenin-like repeat) superfamily, which has been implicated in mediating protein-protein interactions. The ARMC5 protein plays a role in adrenal gland growth homeostasis and corticosteroid synthesis.

Mutations in ARMC5 are associated with macronodular adrenal hyperplasia (OMIM 615954), an autosomal dominant susceptibility to tumours of the adrenal glands. This often results in clinical Cushing syndrome (Assié et al. 2013). The susceptibility to adrenal tumours has incomplete penetrance, as a somatic second hit to the ARMC5 gene is required for tumour development.

Regulatory status

SALSA MLPA Probemix P481 PRKAR1A-ARMC5 is for research use only (RUO) in all territories.

Product documentation

Version A1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P481-025R
SALSA MLPA Probemix P481 PRKAR1A-ARMC5 – 25 rxn
MLPA
€ 296.00
P481-050R
SALSA MLPA Probemix P481 PRKAR1A-ARMC5 – 50 rxn
MLPA
€ 580.00
P481-100R
SALSA MLPA Probemix P481 PRKAR1A-ARMC5 – 100 rxn
MLPA
€ 1135.00

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
€ 361.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 361.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6373.00

Other products

These optional accessories can be ordered separately.

Item no.
Description
Technology
Price
SMR05
SALSA FFPE Solution (SFS) – 50 rxn (10 ml)
MLPA MS-MLPA
€ 47.00

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.

The commercially available positive samples below can be used with the current (A1) version of this product.

  • Coriell NA05875: Heterozygous deletion affecting the probes for ZNF843, ARMC5 and TGFB1I1 on chromosome 16.
  • DSMZ ACC-49 (L-363): Gain affecting the probes for FLCN, BRIP1, AXIN2, SLC16A6, ARSG, WIPI1, PRKAR1A and FAM20A on chromosome 17. Some of the reference probes are also affected by CNAs.

Resources

General MLPA resources

MLPA education

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