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P074 AR

SALSA MLPA Probemix P074 AR detects copy number variations in the AR gene.

Specifications

Contents: 25 MLPA probes, including 14 probes for AR (covering all the exons) and 2 probes for exon 1 of the transcript variant 2.

Tissue: human genomic DNA.

Application: androgen insensitivity syndrome (AIS) and spinal and bulbar muscular atrophy (SBMA).

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

Quick links

List Prices Documentation

General information

The SALSA MLPA Probemix P074 AR is a research use only (RUO) assay for the detection of deletions or duplications in the AR gene, which is associated with androgen insensitivity syndrome (AIS) and spinal and bulbar muscular atrophy (SBMA).

AIS, formerly known as the testicular feminization syndrome, is a recessive disorder in which affected males have female external genitalia, female breast development, blind vagina and female adnexa, and abdominal or inguinal testes, despite a normal male (XY) karyotype. Partial androgen insensitivity results in hypospadias and micropenis with gynecomastia (Reifenstein syndrome). AIS is caused by mutations in the AR gene.

X-linked spinal and bulbar muscular atrophy (SBMA, SMAX1), also known as Kennedy disease, is a recessive form of spinal muscular atrophy, which only occurs in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia. The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy. It is caused by a trinucleotide CAG repeat expansion in exon 1 of the AR gene. SBMA patients usually harbour 38 or more CAG repeats, whereas healthy individuals have 10 to 36 CAG repeats. Note that the length of the trinucleotide repeat cannot be measured by MLPA.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1429/ and https://www.ncbi.nlm.nih.gov/books/NBK1333/ .

Regulatory status

SALSA MLPA Probemix P074 AR is for research use only (RUO) in all territories.

Product documentation

Version A4

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P074-025R
SALSA MLPA Probemix P074 AR – 25 rxn
MLPA
€ 296.00
P074-050R
SALSA MLPA Probemix P074 AR – 50 rxn
MLPA
€ 580.00
P074-100R
SALSA MLPA Probemix P074 AR – 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

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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