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SALSA MLPA Probemix P061 Lissencephaly

Lissencephaly

Region: PAFAH1B1, DCX, POMT1, POMGNT1, FLNA

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.

This SALSA MLPA Probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content
The SALSA MLPA Probemix P061-D2 Lissencephaly contains 54 MLPA probes with amplification products between 124 and 503 nucleotides (nt). This includes: one probe for each exon of the PAFAH1B1 gene, two probes are included for exon 1 and 2; eight probes flanking PAFAH1B1 are included, five upstream and three downstream; eight probes for all exons of the DCX gene with the exception of exon 1, two probes are included for exons 2 and 3; four probes for the POMT1 gene; four probes for the POMGNT1 gene; six probes for the FLNA gene. In addition, eleven reference probes are included in P061-D2, that detects several chromosomal autosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mlpa.com).

This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com.

Order Items

Probemix

Item no.
Description
Technology
Price
P061-025R
SALSA MLPA Probemix P061 Lissencephaly – 25 rxn
€ 281.00
P061-050R
SALSA MLPA Probemix P061 Lissencephaly – 50 rxn
€ 550.00
P061-100R
SALSA MLPA Probemix P061 Lissencephaly – 100 rxn
€ 1075.00

Required Reagents (Sold Separately)

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
€ 6037.00

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Contains more probes for X-linked mental retardation.

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