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P279 CACNA1A

SALSA MLPA Probemix P279 CACNA1A detects copy number variations in the CACNA1A and KCNA1 genes.

Specifications

Contents: 46 MLPA probes, including 34 probes for CACNA1A, and 2 probes for KCNA1.

Tissue: human genomic DNA.

Application: research on familial hemiplegic migraine (FHM), episodic ataxia 1 (EA1), and episodic ataxia 2 (EA2).

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

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Key related products

P137 SCN1A

Contains probes for the gene SCN1A, which is related seizure disorders including Dravet syndrome and Familial hemiplegic migraine 3.

P348 ATP1A2-CACNA1A-PRRT2

Contains probes for the genes ATP1A2, CACNA1A and PRRT2, which are associated to familial hemiplegic migraine. The 17 CACNA1A probes in P348 are different from the probes in P279.

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General information

The SALSA MLPA Probemix P279 CACNA1A is a research use only (RUO) assay for the detection of deletions or duplications in the genes CACNA1A, which is associated with familial hemiplegic migraine and episodic ataxia 2, and KCNA1, which is involved in episodic ataxia 1.

Familial hemiplegic migraine (FHM) falls within the category of migraine with aura and is characterised by hemiparesis in combination with at least one symptom of aura, such as visual disturbance, sensory loss, and dysphasia. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. Approximately 7% of FHM cases are attributed to pathogenic variants of CACNA1A, located on chromosome 19p13.13. Other genes, including SCN1A, ATP1A2 and PRRT2 have also been associated to FHM. These genes are covered by probemixes P137 SCN1A and P348 ATP1A2-CACNA1A-PRRT2.

Episodic ataxia type 2 (EA2) involves episodes of ataxia including vertigo and nausea. Attacks can also be associated with dysarthria, diplopia, tinnitus, dystonia, hemiplegia and headache, and typically last minutes to days. EA2 is caused by pathogenic variants of CACNA1A and is inherited in an autosomal dominant manner. Overlap has been described between the FHM phenotype associated with pathogenic missense variants of CACNA1A and EA2.

Episodic ataxia type 1 (EA1) is characterized by constant myokymia and episodes of spastic contractions of the skeletal muscles of the head, arms, and legs with loss of both motor coordination and balance. During attacks individuals may experience a number of variable symptoms including vertigo, blurred vision, diplopia, nausea, headache, diaphoresis, clumsiness, stiffening of the body, dysarthric speech, and difficulty in breathing. EA1 is caused by pathogenic variants of KCNA1, located on chromosome 12p13.32, and is inherited in an autosomal dominant manner.

More information is available for:

Regulatory status

SALSA MLPA Probemix P279 CACNA1A is for research use only (RUO) in all territories.

Product documentation

Version C1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P279-025R
SALSA MLPA Probemix P279 CACNA1A – 25 rxn
MLPA
€ 286.00
P279-050R
SALSA MLPA Probemix P279 CACNA1A – 50 rxn
MLPA
€ 560.00
P279-100R
SALSA MLPA Probemix P279 CACNA1A – 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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