Probes: CEN 1 (1p11.1-q11.1)
Disease(s): Molar pregnancy vs. partial mole
This test is currently available on a global basis only.
This FISH test analyzes copy number of the chromosome 1 centromere to assess triploidy (associated with partial molar pregnancy) vs. diploidy (associated with full molar pregnancy when pathology is consistent). This is an indirect analysis of products of conception (POC) ploidy based on the assumption that trisomy 1 indicates triploidy, as isolated trisomy 1 is extremely rare in POC. An alternative test that can assess ploidy of multiple chromosomes as well as maternal vs. paternal inheritance is the molecular Chimerism / DNA Fingerprinting Analysis. (A maternal blood sample is required for the molecular test to differentiate parental inheritance, but is not required for ploidy analysis alone.)
- Note: Specimen must contain villi and/or fetal tissue.
- Paraffin block: Send paraffin block.
- Cut slides: H&E slide (required) plus 4 unstained slides cut at 4-5 microns.
Storage and Transportation
Use cold pack for transport, making sure cold pack is not in direct contact with specimen.
88368x1 manual. Codes may differ if automated analysis is performed.