Chromosome Analysis, Chorionic Villi Biopsy With Reflex to SNP Microarray (Reveal®)
Also known as: CVS Prenatal Karyotyping, Chromosome Analysis With Reflex to Microarray
Use
The chromosome analysis determines fetal karyotype. A normal chromosome analysis will reflex to the SNP assay, which will detect chromosomal imbalances that could be associated with developmental delay/congenital anomalies. It provides detection of possible uniparental disomy of any chromosome, the percent and location of homozygosity, including the degree of identity by descent. If specimens from a twin pregnancy are submitted by request, it can be reported if these are DZ or MZ twins.
Special Instructions
Pertinent medical findings must accompany request, and if prior Non-Invasive Prenatal Testing (NIPT) studies have been performed, a copy of the report should be included.
Limitations
The SNP assay does not detect balanced rearrangements, low-level mosaicism (<10%), marker chromosomes containing only heterochromatin or tetraploidy. Truly balanced chromosome alterations will not be detected, and the threshold for mosaicism is variable.
Methodology
Microarray
Biomarkers
LOINC Codes
- 62389-2
- 64089-6
- 64086-2
- 64085-4
- 64087-0
- 33774-1
- 64088-8
- 31208-2
- 48672-0
Result Turnaround Time
9-12 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
20 to 30 mg
Minimum Volume
5 mg
Container
CVS transport tube
Collection Instructions
Collected in syringe (transabdominal) or catheter (transcervical), washed with sterile saline solution containing sodium heparin, and transported in a sterile container with media.
Storage Instructions
Maintain at room temperature and transport immediately to cytogenetics laboratory. Do not freeze. Refrigerate if sterility questioned or if shipping delayed beyond 24 hours.
Causes for Rejection
Suitability will be determined by the Cytogenetics laboratory upon receipt.
Other tests from different labs that may be relevant