CMA-Expanded and Limited Karyotype - Prenatal - CVS
Use
CMA-Expanded utilizes array-based comparative genomic hybridization (aCGH) and contains 400K oligonucleotides to offer exon-by-exon copy number analysis of over 1,700 genes. This test is essential for identifying copy number changes and is recommended for both providers and patients wishing for thorough fetal evaluations. Implications include enhanced detection capabilities, particularly for conditions such as triploidy and abnormalities detected via prenatal ultrasound. This test serves those at advanced maternal age or with a history of chromosome abnormalities, focusing on providing the highest level of detection for significant genetic conditions linked to fetal development.
Special Instructions
For optimal results, parental samples (5 cc whole blood in EDTA tubes) are necessary, and maternal cell contamination studies will be conducted if maternal blood is provided. In instances where interpretation relies on parental studies, these are performed to clarify significance. Certain high-risk results may necessitate additional testing at a fee-for-service basis, and UPD analysis can be requested for specific findings. Baylor Genetics keeps the client informed regarding significant results and available further testing options.
Limitations
The test will not detect low-level mosaicism, balanced translocations, inversions, or point mutations. Additionally, gains and losses under specific threshold sizes, particularly those involving the mitochondrial genome or those associated with adult-onset disorders without available treatment, will not be reported. It is important to note that detected abnormalities may require further testing, including examination for parental balanced rearrangements and reporting guidelines will adhere to the American College of Medical Genetics standards.
Methodology
Chromosomal / Cytogenetics (FISH)
Biomarkers
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (Fresh)
Volume
15 mg
Minimum Volume
15 mg
Container
sterile tissue culture media
Collection Instructions
Collect 15+ mg CVS in sterile tissue culture media.
Storage Instructions
Ship the sample at room temperature to the laboratory by overnight express. Specimen should arrive in the laboratory within 48 hrs of sample date. Specimen cannot be frozen.
Causes for Rejection
Specimen cannot be frozen.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |