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P187 Holoprosencephaly (HPE)

SALSA MLPA Probemix P187 Holoprosencephaly (HPE) detects copy number variations in the FBXW11, PTCH1, SHH, SIX2, SIX3, TGIF1, TRAPPC10 and ZIC2 genes.

Specifications

Contents: 50 MLPA probes, including 3 probes each for FBXW11, SIX3 and ZIC2, 17 probes for the GLI2 region, 1 probe for PTCH1, 4 probes for SHH, 2 probes each for SIX2 and TRAPPC10, and 5 probes for the TGIF1 region.

Tissue: human genomic DNA.

Application: research on holoprosencephaly (HPE).

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

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Key related products

P067 PTCH1

Contains probes for most PTCH1 exons.

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General information

The SALSA MLPA Probemix P187 Holoprosencephaly (HPE) is a research use only (RUO) assay for the detection of deletions or duplications in the FBXW11, PTCH1, SHH, SIX3, TGIF1, TRAPPC10 and ZIC2 genes, which are associated with holoprosencephaly (HPE). Deletions and duplications of the SIX2 gene, which is adjacent to SIX3, and GLI2, a former HPE candidate, can also be detected with this probemix.

HPE is a complex brain malformation resulting from incomplete cleavage of the forebrain (prosencephalon) during gastrulation, leading to both intracranial and craniofacial midline defects (GeneReviews: NBK1530). Clinical manifestation is variable and can include, among others, a wide spectrum of dysmorphism of the brain and face, neurologic impairment and seizures.

In 25%-50% of cases, HPE is caused by numeric or structural chromosomal abnormalities, most commonly trisomy 13, trisomy 18 and triploidy. Structural chromosome abnormalities have been reported for almost all chromosomes. Moreover, monogenic syndromic (18-25%) as well as monogenic nonsyndromic HPE has been described. Defects in the genes SHH (5.4-5.9%, 7q36.3), ZIC2 (4.8-5.2%, 13q32.3), SIX3 (3%, 2p21) and TGIF1 (<1%, 18p11.31) are among the most common causes of nonsyndromic HPE. Moreover, a 1.24 Mb duplication that included the FBXW11 gene (5q35.1) has been associated with HPE (Koolen et al., 2006). Other HPE candidate genes include PTCH1 (9q22.32) (Richieri-Costa et al., 2016), and TRAPPC10 (21q22.3, previously TMEM1) (Yamakawa et al., 1996). While GLI2 (2q14.2) was postulated to be another HPE candidate, it has become clear that pathogenic variants of GLI2 cause a phenotype with features overlapping with HPE as well as distinct symptoms (Bear et al., 2014).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1530/

Regulatory status

SALSA MLPA Probemix P187 Holoprosencephaly (HPE) is for research use only (RUO) in all territories.

Product documentation

Version B4

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P187-025R
SALSA MLPA Probemix P187 Holoprosencephaly (HPE) – 25 rxn
MLPA
€ 286.00
P187-050R
SALSA MLPA Probemix P187 Holoprosencephaly (HPE) – 50 rxn
MLPA
€ 560.00
P187-100R
SALSA MLPA Probemix P187 Holoprosencephaly (HPE) – 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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