Chromosomal Microarray, Autopsy/Products of Conception/Stillbirth, Tissue
Use
The Chromosomal Microarray is useful for diagnosing congenital copy number changes in products of conception, including aneuploidy and structural abnormalities. It aids in diagnosing chromosomal causes for fetal death and determining the recurrence risk of future pregnancy losses. The test helps identify cryptic imbalances in rearrangements that appear balanced at lower resolutions. It can also provide information on gene content and complexities of abnormalities detected previously by other methods, and assess excessive homozygosity indicative of molar pregnancy.
Special Instructions
A maternal blood sample is suggested for testing to address the possibility of maternal cell contamination, though testing will not be rejected if it is not received. A paternal blood sample is desired but not mandatory. Additionally, a reason for testing and a pathology report are required for testing, but the test will not be rejected if these are not provided.
Limitations
This test does not detect balanced chromosome rearrangements or low-level mosaicism. It is not designed to detect point mutations, small deletions or insertions below the resolution of the assay, or epigenetic changes. Incidental findings may require additional family studies for proper interpretation. Some copy number changes may be difficult to classify definitively due to limited data support. Results can reveal incidental findings unrelated to the original reason for testing.
Methodology
Microarray (SNP Array)
Biomarkers
LOINC Codes
- 94087-4
- 50397-9
- 62356-1
- 69965-2
- 42349-1
- 31208-2
- 80398-1
- 85069-3
- 48767-8
- 18771-6
Result Turnaround Time
21-30 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
Not provided
Container
Formalin-fixed, paraffin-embedded block containing fetal or placental tissue
