SignatureChipWG™
The SignatureChipWG™ uses BAC contigs for every region known to be involved in cytogenetic abnormalities, including over 200 syndromes, the pericentromeric regions, and subtelomeres. Signature Genomic Laboratories has anchored every BAC contig onto one or more genes of known function in important developmental pathways. The disruption of any of these genes is known to cause, or has a very high likelihood of causing, a developmental defect leading to mental retardation, developmental delay, CNS structural abnormality, or other significant birth defects. The result is over 5,600 clones of coverage with an average gap of 600 kb across the genome and a resolution of 80 kilobases (kb).
Every abnormality detected by the SignatureChipWG™ can be visualized by FISH, because each clone has been uniquely selected and rigorously evaluated by FISH to ensure it represents the correct region of the genome. FISH visualization is essential for accurate diagnosis and recurrence risks; it provides information about the nature and causative mechanism of the chromosome alteration.
> Compare the SignatureChipOS and SignatureChipWG.
SignatureChipWG™ characteristics
- Over 5,600 BAC clones
- 300-fold more coverage of genome compared to commercially available 44k oligonucleotide arrays, and over 100-fold more coverage of genome compared to 105k arrays
- Contigs of clones in every band at 850-band resolution—over 21.4% of the total human genome
- 1543 BAC contigs are evaluated in each experiment, representing over 200 recognized genetic syndromes, plus all 41 unique subtelomeric regions, and all 43 unique pericentromeric regions (view regions tested by the SignatureChipWG™)
- Pseudoautosomal clones detect sex chromosome numerical abnormalities
- Pericentromeric probes detect locus-centric marker chromosomes
- High resolution – detects alterations as small as 80-100 Kb
- Minimum of three overlapping BAC clones at each locus for more comprehensive coverage
- Positive controls for each disease locus
- Each test is performed twice using dye-reversal strategy
- Opposite-sex controls are utilized to provide a built-in control with each analysis