XL Prader-Willi/Angelman

Deletion Probe

Order Number
D-5421-050-OG
Package Size
50 µl (5 Tests)
Labels
  
Chromosome
15
Regulatory Status
IVDD

IVDR Certification

MetaSystems Probes has already certified a large part of its portfolio, according to IVDR. For organizational reasons, we currently provide only the IVDD product.

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Product Description

XL Prader-Willi/Angelman

XL Prader-Willi/Angelman consists of an orange-labeled probe hybridizing to the SNRPN/PWAR5 gene region at 15q11.2 and a green-labeled probe hybridizing to the PML gene region at 15q24.

Probe maps are created in accordance with the intended purpose of the product. Solid colored bars do not necessarily indicate that the probe fully covers the indicated genomic region. Therefore, caution is advised when interpreting results generated through off-label use. Probe map details based on UCSC Genome Browser GRCh37/hg19. Map components not to scale. Further information is available on request.

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Clinical Details

Prader-Willi syndrome (PWS), first described by Prader, Labhart and Willi in 1956, and Angelman syndrome (AS) initially reported by Angelman in 1963, are complex neurodevelopmental disorders caused by chromosomal deletion of genes in the 15q11-q13 region. In most cases, the corresponding genes are silenced on the sister chromosome via genetic imprinting. The deletion of the paternal segment 15q11-q13 leads to the development of PWS, while patients carrying the maternal deletion of this segment suffer from AS. The clinical manifestation of PWS is characterized by muscular hypotony (´floppy infants´), hypogonadism, developmental and cognitive delays, hyperphagia and obesity. Furthermore, learning disabilities and obsessive-compulsive disorder can be observed. Typical AS indications observed are a small head, severe intellectual disability and developmental retardation. Speaking, sleep, balance and movement problems, as well as seizure disorder are further symptoms. The most common genetic cause for PWS is the deletion of the paternal 15q11-q13 copy. Maternal uniparental disomy of 15q11-q13 (genes are silenced via genetic imprinting) or translocations with breaks in the 15q11-q13 region are further mechanisms leading to PWS. Genes located in this region, especially SNRPN (small nuclear ribonucleoprotein polypeptide N) and NDN (necdin), are considered to be crucial for disease development. The absence of the maternal UBE3A (ubiquitin-protein ligase E3A) gene copy located in this segment is crucial for the development of AS.

Clinical Applications

  • Microdeletion Syndrome (MicroDel)
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Images

XL Prader-Willi/Angelman

XL Prader-Willi/Angelman hybridized to lymphocytes. One normal metaphase is shown.

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Expected Patterns

Expected Pattern 1

Normal Signal Pattern:
Two green (2G) and two orange (2O) signals.

Expected Pattern 2

Aberrant Signal Pattern:
Two green (2G) and one orange (1O) signal resulting from loss of one orange signal.

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Literature

  • Clayton-Smith and Pembrey (1992) Med Genet 29:412-415
  • Butler (2011) Curr Genomics 12(3):204-215
  • Kalsner and Chamberlain (2015) Pediatr Clin North Am 62(3):587-606

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News

IVDR Certification

MetaSystems Probes has received IVDR certification for our initial 26 fluorescence in situ hybridization (FISH) probes from the notified body, BSI. Achieving this milestone was not without its challenges, and we are delighted to have accomplished IVDR certification for this probe set at an early stage.

IVDR Certification

New Probes Catalog is Online!

 

MetaSystems Probes is pleased to announce the new catalog including new and innovative products and supporting information. A PDF version of the new catalog is available for download here.

New Probes Catalog is Online!