Targeted Chromosomal Microarray Analysis-Prenatal-CVS
Use
Targeted Chromosomal Microarray Analysis (CMA) employs advanced array-based comparative genomic hybridization (aCGH), utilizing 180K oligonucleotides aimed at specific chromosomes (6, 7, 11, 14, 15, 20, X). This test is designed for prenatal assessments, especially in cases of abnormal ultrasound findings, positive NIPT results, or advanced maternal age. It effectively detects well-characterized deletion/duplication syndromes and uniparental disomy (UPD), although it has limitations, notably an inability to identify low-level mosaicism or balanced chromosomal translocations. CMA is critical for those with a family history of chromosome abnormalities or prior reproductive losses, ensuring that significant findings related to genetic risks are thoroughly understood by both providers and patients.
Special Instructions
Parental samples must include 5 cc of whole blood in EDTA tubes, and signed CMA consent is highly recommended. Maternal Cell Contamination studies will automatically be conducted when a maternal blood sample is received. If interpretation requires parental studies, Baylor Genetics will perform these automatically, with specific exceptions noted for certain fetal results. Additionally, Baylor Genetics will notify clients regarding pertinent Absence of Heterozygosity (AOH) results and recommendations for UPD testing, stressing that parental data is essential for accurate analysis.
Limitations
This analysis is limited in reporting certain changes including copy number alterations under 1Mb, changes involving genes with no clinical relevance, and gains associated with specific conditions (e.g., KAL1, 15q11.2 BP1-BP2). Additionally, gains/losses in the mitochondrial genome and certain azoospermia factors will not be reported. The American College of Medical Genetics guidelines dictate the reporting of medically actionable findings, ensuring compliance with established criteria for genetic testing.
New York Approved
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
Not provided
Collection Instructions
Collect 15+ mg CVS in sterile tissue culture media.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hrs |