Chromosome Analysis, Products of Conception (POC) With Reflex to SNP Microarray (Reveal®)
Use
Evaluate possible chromosomal abnormalities as cause of miscarriage. The SNP assay will detect chromosomal imbalance 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. It will also allow the detection of complete or partial molar pregnancies.
Special Instructions
The microarray reflex is designed for specimens that fail to grow in culture. If tissue fails to grow, a reflex to whole genome SNP microarray (Reveal®) targeting 2.8 million copy number and allele-specific genome sites will be initiated. It is important to include clinical information, and if prior Cell-free DNA/NIPT studies have been performed, a copy of that report should be included. Contact customer service for queries or additional reflex testing, which might also incur additional charges and CPT codes.
Limitations
Some products of conception may only contain maternal tissue, which might affect results. SNP assays do not detect balanced rearrangements, low-level mosaicism (<10%), marker chromosomes that only contain heterochromatin, or tetraploidy. Truly balanced chromosome alterations might not be detected, and the threshold for detecting mosaicism is variable. Empirical studies have noted that mosaicism of whole chromosome 22 can go undetected below 10%.
Methodology
Chromosomal / Cytogenetics (Microarray)
Biomarkers
LOINC Codes
- 96984-0
- 62357-9
- 48002-0
- 48672-0
- 62361-1
- 55199-4
- 62360-3
- 62358-7
- 62356-1
Result Turnaround Time
13-24 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (Fresh)
Volume
2 to 4 mm³
Minimum Volume
Not provided
Container
Sterile tube with sterile Ringer's lactate, Hanks' basal salt solution, or Labcorp transport medium
Collection Instructions
Aseptically obtain a small piece of tissue with subepidermal layers. Best results are obtained from placental villi. Submit biopsies in a sterile tube with sterile Ringer's lactate, Hanks' balanced salt solution, or Labcorp transport media. Avoid gross contamination, necrotic tissue, and fixatives.
Storage Instructions
Refrigerate; do not freeze.
Causes for Rejection
Suitability will be determined by the Cytogenetics laboratory. Avoid using urine containers for shipping; avoid saline.
Other tests from different labs that may be relevant