XA 13/21

Aneusomy Probe

Order Number
D-5602-100-OG
Package Size
100 µl (10 Tests)
Labels
  
Chromosomes
1321
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

XA 13/21

The XA 13/21 mix of specific probes allows detecting copy number variations for chromosomes 13 and 21. The green labeled probe hybridizes to a region at 13q14 including the RB1 locus and the orange labeled probe hybridizes to a region at 21q22 including the DSCR4 (Down syndrome critical region 4).

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

Numerical aberrations of autosomes 13, 18, 21, and sex chromosomes X and Y account for 95% of birth defects in newborns. FISH applied to uncultured amniocytes provides a method to identify those aberrations much faster than conventional chromosome analysis. It has become a standard to provide preliminary results for the detection of anomalies in less than 12 hours.

Duplications of chromosome bands q22.13-q22.2 have been shown to define the smallest region implicated in the causation of Down syndrome. Trisomy 13 syndrome is a rare chromosomal disorder in which all or a portion of chromosome 13 appears three times (trisomy). Based on molecular results, a region ranging from 13q14-13qter has been found to be critically involved in Patau syndrome.

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Images

XA 13/21

XA 13/21 was hybridized to normal lymphocytes. Interphase nuclei with two orange and two green signals each are shown.

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Expected Patterns

Expected Pattern 1

Normal Cell:
Two green (2G), two orange (2O) signals.

Expected Pattern 2

Aberrant Cell:
Trisomy 13
Three green (3G) and two orange (2O) signals.

Expected Pattern 3

Aberrant Cell:
Trisomy 21
Two green (2G) and three orange (3O) signals.

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Literature

  • Bryndorf et al (1996) Am J Hum Genet 59:918-926
  • Tepperberg et al (2001) Prenat Diagn 21:293-301
  • Stumm et al (2006) Cytogenet Genome Res 114:296-301

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News

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About 100 guests from 36 countries met on the XVIII. MetaSystems Distributor Meeting (DM) in November to exchange experiences and to get to know new trends and developments at MetaSystems.

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New MetaSystems Office in Latin America

MetaSystems proudly announces the opening of our first subsidiary in the Southern hemisphere. The new office is located in Buenos Aires, Argentina and bears the name MetaSystems Latinoamérica SAS (MetaSystems LatAm). The foundation has been the response to the growing demand on technical knowledge and 'know how' experienced in the last years all over the Latin American territories. MetaSystems LatAm takes care for the organization of sales, support, and customer relation activities in all countries in Latin America. It will manage distributor companies and contacts in the region, and it will facilitate communication between end-users, distributors and headquarters in Germany.

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MetaSystems Workshop in Dehradun, India

A “Hands-on Workshop on FISH and its application in Pathology and Clinical Medicine” was organized by MetaSystems and Department of Pathology, Himalayan Institute of Medical Sciences (HIMS) to demonstrate the applications of FISH in hematological malignancies and solid tumors.

MetaSystems Workshop in Dehradun, India