MICRODELETION SYNDROMES

Vysis DiGeorge Region LSI TUPLE 1 SpectrumOrange/ LSI ARSA SpectrumGreen Probe Set

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PRODUCT NAME UNIT SIZE ORDER NUMBER GTIN


This fluorescence in situ hybridization (FISH) probe set is intended to detect deletions of the TUPLE1 (HIRA) gene region on chromosome 22q11.2 in metaphase chromosomes.

The 22q11.2 hybridization target of the 117 kb SpectrumOrange LSI TUPLE1 (HIRA) probe extends from 87 kb centromeric to the HIRA gene to a point within the gene 13 kb from its telomeric end. The 334 kb SpectrumGreen ARSA probe target begins centromeric to the SBF1 gene and ends at a point between the SHANK3 and ACR genes (22q13.3). On the March 2006 assembly of the human genome,7 the TUPLE1 (HIRA) probe covers base pairs 17,669,001 to 17,785,903 and the ARSA probe spans from base pairs 49,187,176 to 49,520,735 on chromosome 22.