For infants under 1 year of age: 1-2 ml in a lavender (EDTA) AND 1-2 mL in a green top (sodium heparin) For children over 1 year of age: 3-5 ml in a lavender (EDTA) AND 3-5 mL in a green top (sodium heparin) For adults: 5-7 ml in a lavender (EDTA) AND 5-7 ml in a green top (sodium heparin)

Specimens are accepted Monday - Friday, 0800-1700. Provide details of clinical information. If the specimen is collected over the weekend, please page the technologist on call by dialing 1-888-533-0186. When it stops ringing, enter your phone number, the '#' sign, and hang up.

Oligo Array CGH is indicated for patients with normal chromosome analysis and: Unexplained developmental delay or mental retardation Dysmorphic features or congenital anomalies Autism spectrum disorders, seizures, or a clinical presentation suggestive of a chromosomal syndrome Oligo array CGH is also indicated for individuals with a previously identified chromosomal abnormality: For unbalanced rearrangements, oligo array can be used to size the deletion or duplication, and identify the number of genes involved For 'apparently balanced' rearrangements and an abnormal clinical phenotype, oligo array can be used to test for cryptic deletions/ duplications at the breakpoints or at other regions Shivanand R. Patil Cytogenetics & Molecular Laboratory Website

The detection of deletions and duplications of 500kb or greater is expected to be very high using the Nimbelgen 385k whole genome oligo array. Detection is limited to gain of copy number (duplication), loss of copy number (deletion), or normal copy number. Deletions and duplications 500kb or greater are reported. Smaller deletions or duplications in regions of known microdeletion/microduplication syndromes or in targeted genes will also be reported. Oligo array will not detect translocations, inversions, smaller imbalances, point mutations, or low level mosaicism (usually less than 25%) that may underlie the clinical presentation of the patient.

DNA isolated from peripheral blood is hybridized to a Nimblegen array containing oligonucleotide clones across the genome to detect copy number imbalances. FISH analysis is used to confirm any abnormal findings.