SALSA MLPA P373 Microdeletion syndromes 7 probemiximproved

application: Microdeletion follow-up
region: 1p36, 3q29, Wolf-Hirschhorn, Cri du Chat, Phelan-McDermid
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version: C1
sold since: 2017-05-15

item no. description price
P373-025R SALSA MLPA P373 Microdeletion syndromes 7 probemix – 25 rxn € 237
P373-050R SALSA MLPA P373 Microdeletion syndromes 7 probemix – 50 rxn € 474
P373-100R SALSA MLPA P373 Microdeletion syndromes 7 probemix – 100 rxn € 948
EK1-FAM SALSA MLPA EK1 reagent kit – 100 rxn - FAM € 294
EK1-Cy5 SALSA MLPA EK1 reagent kit – 100 rxn - Cy5 € 294
EK5-FAM SALSA MLPA EK5 reagent kit – 500 rxn - FAM € 1355
EK5-Cy5 SALSA MLPA EK5 reagent kit – 500 rxn - Cy5 € 1355

Please note that both a probemix and reagent kit are needed to perform MLPA.

description
The purpose of the P373 probemix is to further investigate results found with the P245 Microdeletion Syndromes-1A probemix. The P245 probemix provides the possibility to screen samples for different microdeletion syndromes in a single reaction. For confirmation of results obtained with this P245 probemix, four different probemixes are available with additional probes in these regions: P371, P372, P373 and P374 Microdeletion Syndromes.

The P373-C1 probemix contains probes for the 1p36 region (12 probes), the 3q29 Microdeletion syndrome region (8 probes), the Wolf-Hirschhorn region on 4p (8 probes), the Cri-du-Chat region on 5p (11 probes), and the 22q13 Phelan-McDermid region (8 probes).

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the above mentioned chromosomal regions in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak height of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak height, 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.

related products
SALSA MLPA P064 Mental Retardation-1 probemix
Contains probes for 1p36 deletion, Wolf-Hirschhorn, Cri-du-Chat, Sotos, Saethre-Chotzen, Williams-Beuren, Langer-Giedion, WAGR, Prader-Willi/Angelman, Rubinstein-Taybi, Miller-Dieker, Smith-Magenis, Alagille, DiGeorge, and Phelan-McDermid syndrome.
SALSA MLPA P147 1p36 probemix
1p36 Deletion Syndrome.
SALSA MLPA P188 22q13 probemix
Phelan-McDermid syndrome, Telomeric monosomy 22q13.3.
SALSA MLPA P245 Microdeletion Syndromes-1A probemix
Contains probes for several microdeletion/microduplication syndromes and can be used for primary screening of microdeletion/microduplication syndromes.
SALSA MLPA P297 Microdeletion Syndromes-2 probemix
Contains probes for microdeletion syndromes on 1q21.1, 3q29, 7q36.1, 12p11.23, 15q13, 15q24.1, 16p11, 17q12, 18q21.2, and 20p12.2.
SALSA MLPA P371 Microdeletion syndromes 5 probemix
One of four different P245 follow-up probemixes. This probemix contains more probes for a subset of the microdeletion syndromes covered by P245.
SALSA MLPA P372 Microdeletion syndromes 6 probemix
One of four different P245 follow-up probemixes. This probemix contains more probes for a subset of the microdeletion syndromes covered by P245.
SALSA MLPA P374 Microdeletion syndromes 8 probemix
One of four different P245 follow-up probemixes. This probemix contains more probes for a subset of the microdeletion syndromes covered by P245.

product history
version C1: Two probes, targeting 1p and 5p, have been removed. In addition five probe lengths have been adjusted.
version B1: Three target probes (SHANK3 and WHSC1) which are also included in the P245 have been replaced by probes for SEMA5A, furthermore the probe for FGFR2 has been removed. In addition the control fragments have been adjusted (QDX2).
version A1: changes not specified

improved products
P101-STK11
Peutz-Jeghers syndrome (PJS)
P113-FANCB
Fanconi anemia complementation group B
P029-WBS
Williams-Beuren syndrome
P437-Familial MDS-AML
Familial MDS-AML
P210-BTK
Agammaglobulinemia
P373-Microdeletion-7
Microdeletion follow-up
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