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P061 Lissencephaly

SALSA MLPA Probemix P061 Lissencephaly detects copy number variations in the PAFAH1B1, DCX, POMT1, POMGNT1, and FLNA genes.

Specifications

Contents: 54 MLPA probes, including 13 probes for PAFAH1B1 (covering all exons), 8 probes for DCX, 4 probes for POMT1, 4 probes for POMGNT1, and 6 probes for FLNA.

Tissue: human genomic DNA.

Application: research on lissencephaly.

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

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List Prices Documentation

Key related products

P106 X-linked ID

Contains more probes for X-linked mental retardation.

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General information

The SALSA MLPA Probemix P061 Lissencephaly is a research use only (RUO) assay for the detection of deletions or duplications in the PAFAH1B1, DCX, POMT1, POMGNT1 and FLNA genes, which is associated with Lissencephaly.

Classical lissencephaly (LIS1), or isolated lissencephaly sequence (ILS), and subcortical band heterotopia (SBH) are neuronal migration disorders associated with severe intellectual disability and epilepsy. Abnormalities of the PAFAH1B1 and DCX genes are implicated in the majority of patients with these disorders and account for approximately 75% of patients with ILS, whereas mutations of DCX account for 85% of patients with SBH. Lissencephaly may be associated with other diseases including Miller-Dieker syndrome, and Walker-Warburg syndrome. Duplications of the 17p13 region encompassing PAFAH1B1 have been reported to result in mild to moderate developmental delay.

This probemix includes probes for the lissencephaly related genes, such as; PAFAH1B1 (LIS1), DCX (SBH), POMT1 (Walker-Warburg syndrome), POMGNT1 (Muscle-Eye-Brain disease) and FLNA (periventricular nodular heterotopia, frontometaphyseal dysplasia and otopalatodigital syndrome).

The PAFAH1B1 gene (11 exons), spans ~92 kb of genomic DNA and is located on chromosome 17p13.3, ~2.5 Mb from the p-telomere.

The DCX gene (7 exons), spans ~118 kb of genomic DNA and is located on chromosome Xq23, ~111 Mb from the p-telomere.

The POMT1 gene (20 exons), spans ~21 kb of genomic DNA and is located on chromosome 9q34.13, ~131.5 Mb from the p-telomere.

The POMGNT1 gene (22 exons), spans ~10 kb of genomic DNA and is located on chromosome 1p34.1, ~46 Mb from the p-telomere.

The FLNA gene (48 exons), spans ~26 kb of genomic DNA and is located on chromosome Xq28, ~154 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK5189.

Regulatory status

SALSA MLPA Probemix P061 Lissencephaly is for research use only (RUO) in all territories.

Product documentation

Version D2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P061-025R
SALSA MLPA Probemix P061 Lissencephaly – 25 rxn
MLPA
€ 286.00
P061-050R
SALSA MLPA Probemix P061 Lissencephaly – 50 rxn
MLPA
€ 560.00
P061-100R
SALSA MLPA Probemix P061 Lissencephaly – 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 (D2) version of this product.

  • Coriell NA06047: Heterozygous deletion affecting the probes for YWHAE, HIC1, METTL16, PAFAH1B1, KIAA0664, RAP1GAP2 and TRPV1 on chromosome 17p.

Resources

General MLPA resources

MLPA education

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