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P480 WHS & Achondroplasia

SALSA MLPA Probemix P480 WHS & Achondroplasia detects copy number variations in the 4p16 region.

Specifications

Contents: 51 MLPA probes, including 38 probes for the 4p16 region, and 1 probe for FGFR3 c.1138G>A (p.Gly380Arg).

Tissue: human genomic DNA.

Application: research on Wolf-Hirschhorn syndrome (WHS), and achondroplasia (ACH).

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

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Key related products

P036 Subtelomeres Mix 1

Detects copy number variations in subtelomeric regions. Contains one probe for each of the 41 subtelomeric regions and 5 probes near the centromeric regions of the five acrocentric chromosomes.

P064 Microdeletion Syndromes-1B

Detects recurrent microdeletions/microduplications. Contains probes for 15 different microdeletion syndromes.

P070 Subtelomeres Mix 2B

Detects copy number variations in subtelomeric regions. Contains a probe for each of the 41 subtelomeric regions and five probes near the centromeric regions of the five acrocentric chromosomes.

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General information

The SALSA MLPA Probemix P480 WHS & Achondroplasia is a research use only (RUO) assay for the detection of deletions or duplications in the 4p16 chromosomal region, which is associated with Wolf-Hirschhorn syndrome (WHS). This probemix can also be used to detect the presence of the c.1138G>A (p.Gly380Arg) point mutation, which causes the vast majority of cases of achondroplasia (ACH).

WHS is characterised by severe growth retardation, intellectual disability of variable degrees, microcephaly, "Greek helmet" facies, and closure defects (cleft lip or palate, coloboma of the eye, and cardiac septal defects), among others (Zollino et al. 2008). The prevalence of this syndrome is estimated at about 1 in 50,000 births, although it is suspected to be higher, at about 1 in 20,000 births (Berrocoso et al. 2020). Furthermore, the incidence is twice as high in females than males (Coles et al. 1992). The syndrome is caused by a heterozygous deletion of the WHS critical region on 4p16.3. Most individuals with WHS have de novo 4p terminal and interstitial deletions (50-60%), de novo microdeletions (25-30%), or an unbalanced translocation (~15%). The remainder have other complex rearrangements leading to 4p16 deletion (South et al. 2008). The deletion extent of the 4p subtelomeric region varies between patients, with smaller deletions resulting in a milder phenotype than larger ones (Zollino et al. 2008).

One of the genes in the 4p16 chromosomal region is the FGFR3 gene. The c.1138G>A mutation in exon 10 of the FGFR3 gene causes approximately 98% of cases of ACH (Etlik et al. 2008). ACH is the most common cause of disproportionate short stature. The worldwide prevalence of this genetic disorder is estimated at about 1 in 22,000 births (Foreman et al. 2020).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1183/ (WHS) and https://www.ncbi.nlm.nih.gov/books/NBK1152/ (ACH).

Regulatory status

SALSA MLPA Probemix P480 WHS & Achondroplasia is for research use only (RUO) in all territories.

SALSA Sample DNA for this product

SALSA Binning DNA SD080 is an artificial DNA sample with a signal for all probes in the P480 WHS & Achondroplasia probemix. Inclusion of a reaction with SD080 in initial experiments and in experiments following a change in electrophoresis conditions is recommended to aid in the creation of a bin set that links peaks to the probes that produce them. Binning DNA cannot be used as a reference sample in the MLPA data analysis, and cannot be used to quantify the signals of mutation-specific probes.

A vial of SALSA Binning DNA SD080 is included with every order of the P480 WHS & Achondroplasia probemix, but it is possible to order additional vials separately.

For more information, see the product description.

Product documentation

Version A1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P480-025R
SALSA MLPA Probemix P480 WHS & Achondroplasia – 25 rxn
MLPA
€ 286.00
P480-050R
SALSA MLPA Probemix P480 WHS & Achondroplasia – 50 rxn
MLPA
€ 560.00

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

Sample DNAs (included)

A vial is included with every order of this probemix, but additional vials can also be purchased separately.

Item no.
Description
Technology
Price
SD080
SALSA Binning DNA SD080 – 6 rxn
MLPA
€ 24.15

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.

See this support article for commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

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