Chromosome Analysis, Chorionic Villus Sample
Also known as: CVS, Chromosome Study, CVS, Chromosome Evaluation
Use
Chromosome Analysis using chorionic villus sampling (CVS) provides prenatal diagnostic information regarding fetal chromosomal abnormalities. It detects numeric and structural chromosomal alterations, such as trisomies (e.g., Down syndrome [trisomy 21], trisomy 18, trisomy 13), sex chromosome abnormalities (e.g., Turner syndrome, Klinefelter syndrome), rearrangements (Robertsonian translocations, inversions), marker chromosomes, and mosaicism at or above approximately 14% at a 95% confidence level. It does not detect microdeletion syndromes below cytogenetic resolution (e.g., DiGeorge, Prader–Willi, Angelman, Williams), fragile X syndrome, single-gene disorders, or cryptic gains/losses. If mosaicism or microdeletion syndromes are suspected, additional testing (e.g., microarray) may be appropriate.
Special Instructions
Not provided.
Limitations
This assay cannot detect most microdeletion syndromes, fragile X syndrome, single-gene disorders, or cryptic submicroscopic gains or losses. Mosaicism below ~14% at 95% confidence is not reliably detected. Maternal cell contamination (MCC) cannot always be ruled out, and if suspected, an STR-based Maternal Cell Contamination Study may be added.
Methodology
Chromosomal / Cytogenetics
Biomarkers
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Tissue
Volume
Not provided
Minimum Volume
Not provided
Other tests from different labs that may be relevant