Úvod Reagencie Prenatal & postnatal SALSA MLPA P245 Microdeletion-1 probemix - 100 reactions

SALSA MLPA P245 Microdeletion-1 probemix - 100 reactions

application: Microdeletion syndromes
region: Various Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Na dotaz
Kód produktu P245-100R

Nejnovější informace o produktu naleznete exklusivně na stránkách výrobce MRC-Holland www.mlpa.com (nové okno)

Detailní popis SALSA MLPA P245 Microdeletion-1 probemix - 100 reactions

P245-025R SALSA MLPA P245 Microdeletion Syndromes-1 probemix – 100 rxn

description
This SALSA® MLPA® P245 Microdeletion Syndromes-1 probemix has been developed to screen patients presenting with unexplained developmental delay and/or mental retardation for multiple microdeletion syndromes simultaneously. Results suggesting a deletion or duplication of a given chromosomal region can be confirmed by other techniques or by a syndrome-specific MLPA probemix. For nearly all syndromes included in this P245 probemix, a larger number of probes for the chromosomal region(s) involved is present in the P371, P372, P373 and P374 probemixes (please see page 4-8 of the product description or www.mlpa.com).

This SALSA® MLPA® P245 probemix has a limited number of probes for each specific chromosomal region and will therefore not detect all possible causes of the syndromes included. For example, 70% of Prader-Willi cases are caused by a large deletion of a 15q region which should be detected by this P245 probemix. However, the methylation changes in the SNRPN gene region, which are another common cause of this syndrome, will not be detected. These methylation changes can be detected using the SALSA® MS-MLPA probemix ME028 Prader-Willi/Angelman. In case a particular phenotype of the patient indicates a specific microdeletion syndrome, we recommend also using a condition-specific MLPA probemix and/or another suitable technique to study the particular microdeletion syndrome suspected.

The microdeletion syndromes-1 detected with this probemix P245 include:
1p36 deletion syndrome*
2p16 microdeletion
2q23 microdeletion / MBD5
2q33 microdeletion / SATB2
3q29 microdeletion
9q22.3 microdeletion
15q24 deletion syndrome*
17q21 microdeletion*
22q13 / Phelan-McDermid*
Cri du Chat syndrome, 5p15*
DiGeorge syndrome 22q11*
Distal 22q11 region
DiGeorge region 2, 10p15
Langer-Giedion syndrome, 8q
Miller-Dieker syndrome, 17p*
NF1 microdeletion syndrome
Prader-Willi / Angelman*
MECP2 / Xq28 duplication*
Rubinstein-Taybi syndrome
Smith-Magenis syndrome*
Sotos syndrome 5q35.3*
Williams syndrome*
Wolf-Hirschhorn 4p16.3*

* Results obtained by Tommy Gerdes and colleagues in Copenhagen using the A1 version of the SALSA® MLPA® probemix P245 on patient samples are available on:
http://www.chromosomelab.dk/mlpa/examples-P245-vs2.html

This SALSA® MLPA® probemix is designed to detect /duplications of one or more sequences in the above mentioned chromosomal regions in a DNA sample. Heterozygous deletions of autosomal recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. Deletions of a probe’s recognition sequence on the X-chromosome will lead to a complete absence of the corresponding probe amplification product in males, whereas female heterozygotes are recognisable by a 35-50% reduction in relative peak area. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak area, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings.  

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