DESCRIPTION
The Oligo Micro Array Chip-244K is a targeted whole genome array that detects nearly every disorder detected by ordinary FISH and multiple chromosomal analysis tests in one assay. The chip detects deletions and duplications at multiple targeted sites including all loci/regions associated with known microdeletion and microduplication syndromes (i.e. VCFS and Smith-Magenis), and also identifies novel microdeletion and microduplication syndromes throughout the genome. Coverage also includes subtelomeric and pericentromeric regions of the chromosomes to identify cryptic chromosomal abnormalities caused by genomic imbalance.
Click here for disorders covered by this assay.
| Test Order Code | CMA-244K |
|
CPT Codes |
83891 x 1, 83892 x 2, 83894 x 2, 84311 x 1, 88386 x 2 |
| Indications For Testing |
The Chromosomal Micro Array (CMA) may be indicated for testing in patients where there is, for example, suspicion for multiple congenital anomalies, dysmorphic features, unexplained mental retardation or developmental delay. They may also be ordered for prenatal testing. |
| Mutations | Multiple |
|
Turn Around Time |
Less than two weeks. Expedited analysis is available upon request for an additional charge. |
| Specimen Requirements |
Peripheral Blood Peripheral blood collection requires a Lavender-top (EDTA) vaccutainer tube available in the DNA Specimen Collection Kit. Keep sample at ambient temperature and ship by overnight courier to arrive at the Molecular Laboratory within 24 hrs after collection of the specimen. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature.
|
| Specimen Kits | DNA Specimen Collection Kits can be obtained from Transgenomic Molecular Laboratory. |
| Shipping and Contact Information |
Transgenomic Molecular Laboratory 12325 Emmet Street Omaha, NE 68164 USA Phone: (866) 500-GENE / (866) 500-4363 Fax: (402) 452-5447 E-mail: labservice@transgenomiclabs.com |
| Test Submission and Patient Consent Forms |
Due to the unique nature of genetic testing, patients should receive pre-test and post-test counseling. Informed consent is recommended. |
| Test Methodology | Chromosomal micro-array analysis (CMA). |
| Sensitivity |
Probe Coverage Specifications Intragenic probes 70% Intergenic probes 30% RefGenes represented 97.90% Median probe spacing Overall 8.9KB Intragenic 7.4kb Intergenic 16.5kb Average probe spacing* 6KB *Calculated by dividing total repeat-masked genome size by total microarray features. |
| Limitations | While CMA is a relatively new and accurate technology, it will only detect those genetic defects and loci indicated. For some loci, little clinical information may be available to predict clinical outcome. For others, changes in a locus may only represent a small fraction of the genetic changes related to the disorder. |
Note: The performance characteristics of this test were validated by TRANSGENOMIC Molecular Laboratory. The U.S. Food and Drug Administration (FDA) has not approved this test. However, FDA approval is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. TRANSGENOMIC Molecular Laboratory is authorized under Clinical Laboratory Improvement Amendments (CLIA) to perform high-complexity testing.
TRANSGENOMIC MOLECULAR LABORATORY
Phone: (866) 500-GENE/ (866) 500-4363
FAX: (402) 452-5447