XL Wolf-Hirschhorn

Deletion Probe

Order Number
Package Size
50 µl (5 Tests)
Regulatory Status

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 Wolf-Hirschhorn

XL Wolf-Hirschhorn consists of an orange-labeled probe hybridizing to the NSD2/NELFA gene region at 4p16.3 and a green-labeled probe hybridizing to a region at 4q12.

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

Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder characterized by a range of problems including the minimal diagnostic criteria: distinctive facial features (Greek warrior helmet appearance), congenital hypotonia, intellectual disabilities, delayed development and seizures.
The association of partial 4p16 deletions with WHS was first described by Cooper and Hirschhorn in 1961. Most 4p16 deletions in WHS occur de novo, only in the minority of cases the rearranged chromosome is inherited. WHS is a contiguous gene syndrome associated with haploinsufficiency of several closely linked genes. The severity of clinical manifestation depends on the amount of genetic material affected.
Two WHS critical regions (WHSCR) have been identified. The classical WHSCR1, spanning 165 kb on chromosomal location 4p16.3, includes the genes NSD2 (nuclear receptor binding SET domain protein 2) and NELFA (negative elongation factor complex member A). WHSCR2 was defined based on the identification of patients with atypical forms of WHS, showing no deletion of WHSCR1. WHSCR2 is located distally to WHSCR1 partially including the gene NSD2, but excluding NELFA.

Clinical Applications

  • Microdeletion Syndrome (MicroDel)
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XL Wolf-Hirschhorn

XL Wolf-Hirschhorn 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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  • Wright et al (1997) Hum Mol Gen 6:317-324
  • Zollino (2003) Am J Hum Genet 72:590-597
  • Buggenhout (2004) J Med Genet 41:691-698



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