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SALSA MLPA Probemix P232 FGD1

Aarskog-Scott syndrome

Region: FGD1 Xp11.22

General Information: The SALSA MLPA Probemix P232 FGD1 is a research use only (RUO) assay for the detection of deletions or duplications in the FGD1 gene, which is associated with Aarskog-Scott syndrome.

Aarskog-Scott syndrome, also known as faciogenital dysplasia (FGDY), is an X-linked disorder characterised by short stature and facial, skeletal and genital abnormalities. To date, mutations in the FGD1 gene are the only known genetic cause of Aarskog-Scott syndrome. However, only ~20% of people with this syndrome have identifiable mutations in FGD1.

The FGD1 gene (18 exons), spans ~51 kb of genomic DNA and is located on chromosome Xp11.22, ~55 Mb from the p-telomere.

Probemix content:
The SALSA MLPA Probemix P232-C2 FGD1 contains 29 MLPA probes with amplification products between 142 and 463 nucleotides (nt). This includes 19 probes for the FGD1 gene, one probe for each of the 18 exons and two probes for exon 1, and one flanking probe for the MAGEH1 gene. In addition, nine reference probes are included that detect locations on the X-chromosome. 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
P232-025R
SALSA MLPA Probemix P232 FGD1 – 25 rxn
€ 243.00
P232-050R
SALSA MLPA Probemix P232 FGD1 – 50 rxn
€ 486.00
P232-100R
SALSA MLPA Probemix P232 FGD1 – 100 rxn
€ 972.00

Required Reagents

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

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