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P049 SLC6A8 - ABCD1

SALSA MLPA Probemix P049 SLC6A8 - ABCD1 detects copy number variations in the SLC6A8 and ABCD1 genes, and in the Xq28 chromosomal region.

Specifications

Contents: 43 MLPA probes, including 9 probes for SLC6A8, 9 probes for ABCD1 and 16 probes for the Xq28 chromosomal region.

Tissue: human genomic DNA.

Application: research on X-linked creatine deficiency syndrome, X-linked adrenoleukodystrophy (X-ALD), and X-linked hydrocephalus.

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

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List Prices Documentation

Key related products

P015 MECP2

Additional probes for the MECP2 gene and one probe for the VAMP7 (SYBL1) gene.

P061 Lissencephaly

Additional probes for the FLNA gene.

P178 F8

Contains probes for the F8 gene, also located at Xq28.

View all

General information

The SALSA MLPA Probemix P049 SLC6A8-ABCD1 is a research use only (RUO) assay for the detection of deletions or duplications in the SLC6A8 gene, the ABCD1 gene and the Xq28 chromosomal region.

Defects in the SLC6A8 gene, encoding the X-linked creatine transporter, are a relatively frequent cause of intellectual disability in males. Several other genes located at a short distance from SLC6A8 have also been implicated in neurological syndromes, including L1CAM (X-linked hydrocephalus, this probemix), MECP2 (RETT syndrome; P015 probemix), FLNA (lissencephaly; P061 probemix) and ABCD1 (X-linked adrenoleukodystrophy; this probemix).

Defects in the ABCD1 gene result in adrenoleukodystrophy due to defective peroxisomal beta oxidation and the accumulation of the saturated very long chain fatty acids (VLCFA) in all tissues of the body. The manifestations of the disorder occur primarily in the adrenal cortex, in the myelin of the central nervous system, and in the Leydig cells of the testes.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK3794/ and https://www.ncbi.nlm.nih.gov/books/NBK1315/.

Regulatory status

SALSA MLPA Probemix P049 SLC6A8 - ABCD1 is for research use only (RUO) in all territories.

Product documentation

Version C2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P049-025R
SALSA MLPA Probemix P049 SLC6A8 - ABCD1 – 25 rxn
MLPA
€ 286.00
P049-050R
SALSA MLPA Probemix P049 SLC6A8 - ABCD1 – 50 rxn
MLPA
€ 560.00
P049-100R
SALSA MLPA Probemix P049 SLC6A8 - ABCD1 – 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.

The commercially available positive samples below can be used with the current (C2) version of this product.

Resources

General MLPA resources

MLPA education

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