Whole Blood from lavender top (EDTA) tube; Fetal Tissue, Other Tissue

Peripheral Blood:
For infants under 1 year of age: 1-2 mL in a lavender (EDTA)
For children over 1 year of age: 3-5 mL in a lavender (EDTA)
For adults: 5-7 mL in a lavender (EDTA)

DO NOT FREEZE BLOOD SPECIMENS. Store at 4°C prior to delivery to the lab. Label all tubes with the patient name and medical record number.

Tissue:
Specimen obtained aseptically according to your protocol. Do not put specimen in alcohol or formalin. Specimen may be frozen prior to delivery. Label all containers with the patient name and medical record number.

Submit specimen to laboratory as soon as possible after collection. DO NOT FREEZE.

After hours specimens should be taken to Specimen Control. For questions after hours, call (319) 356-1616 and ask the operator to page the cytogenetics on-call staff at pager #5525.

Specimens accepted in the lab Monday-Friday, 0800-1700.

Final results within 30 days

Male: arr (1-22)x2, (XY)x1
Female: arr (1-22,x)x2

CMA is indicated for patients with normal chromosome analysis or: unexplained developmental delay or mental retardation, dysmorphic features or congenital anomalies, autism spectrum disorders, seizures, or a clinical presentation suggestive of a chromosomal syndrome. CMA is also indicated for individuals with a previously identified chromosomal abnormality: unbalanced rearrangements to identify the size of the deletion or duplication, and identify the number of genes involved; for "apparently balanced" rearrangements and an abnormal clinical phenotype, CMA 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 50Kb or greater is expected using the Affymetrix CytoScan HD microarray. Detection is limited to gain of copy number (duplication), loss of copy number (deletion), normal copy number, or loss of heterozygocity. Non-benign deletions and duplications 50Kb or greater are reported. Smaller deletions or duplications in regions of known microdeletion/microduplication syndromes or in targeted genes will also be reported. CMA will not detect translocations, inversions, smaller imbalances, point mutations, or low level mosaicism (usually less than 20%) that may underlie the clinical presentation of the patient.

DNA isolated from peripheral blood or tissue is hybridized to an Affymetrix array containing oligonucleotide and SNP probes across the genome to detect copy number imbalances.

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