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Laboratory Test Directory

POC (Products of Conception) / Tissue Microarray Analysis

Components

Name Method Department Units
POC (Products of Conception) Microarray Analysis Microarray analysis
Cytogenetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

4 mL 4 mL
Stability

Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)

Specimen Preparation

  • Do not centrifuge
  • Do not freeze
  • Keep at room temperature or refrigerate

Tissue (Fresh)

Container Type Container Size Specimen Volume
Preferred

Tissue culture transport media

N/A
Stability

Refrigerated - 24 hour(s)

Alternate

Sterile container with saline

N/A
Stability

Refrigerated - 24 hour(s)

Specimen Preparation

  • Do not formalin fix the sample
  • Do not freeze
  • If delay in transport is greater than 24 hours, refrigerate
  • Transport to the lab immediately after collection

Reasons for Rejection

  • Fixed specimen
  • Frozen specimen
  • Formalin Fixed Tissue
  • Tissue degradation

Comments

Completed Products of Conception (POC) Requisition Form is required. Please submit POC sample in a sterile container containing tissue transport media or sterile saline; make sure that entire POC sample is immersed in media/saline. Testng can be performed on fresh tissue sample, snap-frozen POC tissue sample, or on cultured cells from the submitted POC sample. Formalin-fixed tissue sample is currently NOT accepted for this test. Submission of maternal blood sample is NOT required, although it is recommended to perform maternal cell contamination study. To obtain a test requisition form, please call (614) 722-5321 and speak with a laboratory genetic counselor. If the mother and the father of pregnancy are known to be consanguineous, please provide reported parental relationship information on the requisition form.

While many factors contribute to pregnancy loss and fetal demise (including maternal conditions, environmental exposures, and fetal abnormalities), a chromosome abnormality is present in greater than 50% of first trimester losses and about 20% of second-trimester losses. Determining the cause of a loss could have important implications for evaluating recurrence risk for future pregnancies and future obstetrical management.

Microarray analysis can be used as a companion test to chromosome analysis on POC specimens (chromosome analysis is normal, but the case history or pathology findings warrant further investigation;) or as a replacement test (if chromosome analysis cannot be performed due to culture failure or other reasons).

This microarray analysis evaluates for DNA copy number abnormalities (genomic losses and gains) and large regions of homozygosity (ROH) across the genome. This test uses oligonucleotide probes as well as SNP probes. DNA copy number abnormality detection is done by comparative genomic hybridization (CGH) analysis using ~135,000 oligonucleotide probes, and ROH detection analysis is done by SNP analysis using ~67,000 SNP probes.

This test can detect submicroscopic genomic losses and gains not detectable by routine chromosome analysis (e.g. 22q11.21 microdeletion for DiGeorge syndrome, submicroscopic unbalanced translocations, etc), as well as large imbalances detectable by routine chromosome analysis (e.g. loss or gain of entire chromomosome, large unbalanced translocations/inversions). Genomic loss or gain of certain chromosomal region is known to cause or predispose to phenotypic abnormality. Some genomic loss or gain may have unknown clinical significance at this time or a unique genetic finding that is inherited within a family. If genomic loss or gain is detected, parental microarray, FISH and/or chromosome analyses may be recommended for parental diagnostic and/or recurrence risk assessment.

Presence of ROH is not diagnostic of any disorder, but it can suggest increased risk for two different classes of genetic disorders: disorders of imprinting (uniparental disomy; UPD) and recessive genetic disorders. Evidence suggestive of a blood relationship between the parents (parental consanguinity) also may be revealed. If parental consanguinity is known, please provide reported parental relationship information on the requisition form.

PLEASE NOTE: Microarray analysis may not be able to detect the presence of mosaicism if abnormality is present in less than 30% of cells. Microarray analysis cannot detect balanced chromosomal rearrangements, such as a balanced translocation, balanced inversion, and balanced insertion.

CPT Code

  • 81229