Chromosomal Microarray, CMA-Constitutional
| Epic code: | CYT56 |
| Order form: | Constitutional Genetics Pre and Post-Natal Requisition |
| Supply order: | Supply Order Form |
| Billing: | Billing Policies |
| CPT code: | 81229, 88291 |
Specimen(s):
Whole Blood from lavender top (EDTA) tube; Fetal Tissue, Other
Tissue
Collection Medium:
|
or |
)
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| Lavender top tube 3 mL (EDTA) | Sterile Container |
Minimum:
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.
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.
Testing Schedule:
Specimens accepted in the lab Monday-Friday, 0800-1700.
Turn Around Time:
Final results within 30 days
Reference Range:
Male: arr (1-22)x2, (XY)x1
Female: arr (1-22,x)x2
Female: arr (1-22,x)x2
Test Limitations:
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.
Methodology:
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.
Instructions:
Contact University of Iowa Diagnostic Laboratories
1-866-844-2522 (toll free)
319-384-7213 (Fax)
1-866-844-2522 (toll free)
319-384-7213 (Fax)