Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P069 Subtelomeres Mix 2A probemix - 25 reactions

SALSA MLPA P069 Subtelomeres Mix 2A probemix - 25 reactions

SALSA MLPA P069 Subtelomeres Mix 2A probemix - 25 reactions

application: Subtelomeric testing
region: All subtelomeres
  Detailní informace

Cena s DPH € 286.77
Cena bez DPH € 237.00
 25 react
Dostupnost Skladem
Kód produktu P069-025R

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

Detailní popis SALSA MLPA P069 Subtelomeres Mix 2A probemix - 25 reactions

P069-025R SALSA MLPA P069 Subtelomeres Mix 2A probemix – 25 rxn

MRC-Holland has prepared a mixture of female genomic DNA from healthy individuals and a carefully titrated amount of plasmid that contains the target sequence recognised by several probes present in the selected MLPA probemixes. The use of SD025 in MLPA reactions performed with the selected MLPA probemixes will therefore show a duplication of several sequences. This SD025 can be ordered separately.

Intended use: This SALSA MLPA probemix P069 Subtelomeres Mix 2A is an in vitro diagnostic assay to detect deletion(s) and/or duplication(s) in subtelomeric regions in human DNA derived from peripheral blood, buccal swap, and uncultured amniocytes or chorionic villi as potential cause of developmental delay, dysmorphic features, other congenital abnormalities and/or pregnancy loss. Detected abnormalities should always be confirmed by a designated MLPA follow-up probemix or other technique.

Clinical background: Aberrant copy numbers of subtelomeric regions, e.g. due to an unbalanced translocation, are a frequent cause of developmental delay and congenital abnormalities. This P069-B1 Subtelomeres Mix 2A probemix for MLPA provides a faster, higher-throughput and more economical means than microarray analysis and FISH to identify individuals with a copy number change in one or more subtelomeric regions. MLPA cannot identify balanced rearrangements however, and has a lower detection rate than microarray analysis. Detection rates depend strongly on the patient cohort tested. Examples are 5.9% (Ahn et al, 2007) when testing 455 patients or 3.9% (Stegmann et al, 2008) when testing a patient cohort in which normal G-banding analysis did not detect any abnormalities. Note that the results of Ahn et al. included some samples containing a genetic anomaly that had been inherited from an unaffected parent and which hence might have been a  polymorphism without clinical significance. More information can be found on https://www.orpha.net and http://decipher.sanger.ac.uk/.

P069-B1 probemix content: This SALSA MLPA probemix P069 Subtelomeres Mix 2A contains 42 probes with amplification products between 118 and 445 nts: 2 probes for each chromosome, except for the 5  acrocentric chromosomes (13, 14, 15, 21, 22) which only have 1, and 1  probe for the unique part of the Y chromosome. Forty-one probes are located in subtelomeric regions. No probes are present for the subtelomeric regions of the 5 acrocentric chromosomes (13, 14, 15, 21, 22). The subtelomeric probes for the X and Y chromosome are identical as they detect sequences in the pseudoautosomal regions (PAR1 and PAR2) which are identical in chromosome X and Y.

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