Features
> Aquarius liquid probe format
> Directly labelled microdeletion syndrome critical region probe
> Ready to use: pre-mixed in hybridisation solution
> Simple and clean: co-denaturation protocol
> 10 assay kit format which includes DAPI counterstain and full instructions for use
> Internal control probe
The probe mixtures are designed for fluorescence in situ hybridisation of interphase cells and metaphase chromosomes from cultured peripheral blood cells.

DiGeorge, Velocardiofacial (VCFS), and Conotruncal Anomaly Face syndromes (CATCH22) are characterised by a microdeletion in band 22q11.2. The incidence of these deletions is around 1:4000 making it one of the most common genetic defects. The 2 Mb DiGeorge Critical Region is deleted in up to 90% of patients, whilst a minimal critical region of 480-575 Kb contains the TUPLE1 (HIRA) gene, which is proposed to be responsible for the observed phenotype.
The DiGeorge/VCFS TUPLE1 Region probe encompasses the entire TUPLE1 gene and flanking DNA. It is directly labelled with a red fluorophore (Texas Red spectrum) and accompanied with a 22q subtelomere specific probe (clone n85a3) labelled with a green fluorophore (FITC spectrum).
The 22q subtelomere specific probe (clone n85a3) can be used to detect deletions involved in the 22q13.3 Deletion Syndrome. The clone n85a3 contains the ProSAP2/SHANK3 gene, coding for a structural protein of the postsynaptic density of excitation synapses and expressed in the cortex and cerebellum. This gene is proposed to be a good candidate gene for the 22q13.3 Deletion Syndrome.
Download the Publication

The DiGeorge/VCFS N25 Region probe locates within the DiGeorge VCFS minimal critical region at D22S75. It is approximately 90 Kb incorporating the CTP gene and possibly the CLTD gene. It is labelled with a red fluorophore (Texas Red spectrum) and it may be used to identify deletions of band 22q11.2 found in DiGeorge and associated syndromes. It is accompanied by the subtelomere specific probe at 22qter (clone n85a3) labelled with a green fluorophore (FITC spectrum).
The 22q subtelomere specific probe (clone n85a3) can be used to detect deletions involved in the 22q13.3 Deletion Syndrome. The clone n85a3 contains the ProSAP2/SHANK3 gene, coding for a structural protein of the postsynaptic density of excitation synapses and expressed in the cortex and cerebellum. This gene is proposed to be a good candidate gene for the 22q13.3 Deletion Syndrome. Download the Publication

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are caused by the paternal or maternal loss of genes in 15q11-13, respectively. Around 70% of patients exhibit a deletion of 3-4 Mb, whilst 2-4% of patients exhibit a smaller deletion of the Imprinting Centre (IC). Uniparental disomy accounts for the remaining patients with PWS, but only 80% of AS patients exhibit these defects. The remaining AS are believed to have mutations of one or more genes (UBE3A) in the critical region.
SNRPN is one of four imprinted loci mapping to the critical region. The imprinting centre is 100 Kb proximal to SNRPN. Parental deletions or mutations in the IC impair the imprinting process in 15q11-13 and thus cause the two distinct diseases. The probe mixture cannot detect small deletions of the Angelman region or uniparental disomy.
The Prader-Willi/Angelman Region probe contains the SNRPN gene and the imprinting centre. A 15q subtelomere probe is supplied and both probes are directly labelled, SNRPN with a red fluorophore (Texas Red spectrum) and 15qter with a green fluorophore (FITC spectrum).

In 70% of patients with Prader-Willi or Angelman Syndrome (AS) a large interstitial deletion of 3-4 Mb at 15q11-13 is observed. The remainder exhibit uniparental disomy or mutations in the Imprinting Centre. However, 20% of AS patients do not, suggesting the involvement of a single AS gene. The candidate UBE3A gene lies within the minimum AS critical region and is mutated in 20-30% of AS patients with normal methylation patterns and biparental contribution of 15q11-13. The Angelman Region probe mixture contains the majority of the UBE3A gene, including D15S10 and a 15q subtelomere control probe. The Angelman probe is directly labelled with a red fluorophore (Texas Red spectrum) and the 15qter probe with a green fluorophore (FITC spectrum).