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Laboratory Test Directory

Autopsy Microarray Analysis

Components

Name Method Department Units
Autopsy Microarray Analysis Microarray analysis
Cytogenetics

Specimen Requirements

Tissue (Fresh)

Container Type Container Size Specimen Volume
Preferred

Tissue culture transport media

N/A 10 mm cube
Alternate

Sterile container with saline

N/A 10 mm cube
Stability

Room temperature - 24 hour(s)
Refrigerated - 48 hour(s)

Specimen Preparation

  • Do not add fixative
  • Do not formalin fix the sample
  • Transport to laboratory as soon as possible
  • If delay in transport is greater than 24 hours, refrigerate

Tissue (Frozen)

Container Type Container Size Specimen Volume
Preferred

Sterile container

N/A
Stability

Frozen - 6 month(s)

Specimen Preparation

  • Do not add fixative
  • Do not formalin fix the sample
  • Keep frozen
  • Immediately place on dry ice and transport frozen
  • Transport to laboratory as soon as possible

Reasons for Rejection

  • Tissue degradation
  • Formalin Fixed Tissue
  • Fixed specimen
  • Delayed or improper handling
  • Inadequate tissue

Comments

Completed Products of Conception (POC) Test Requisition Form or Pathology Genetic Test Requisition Form is required. Testng can be performed on fresh tissue sample, snap-frozen tissue sample, or on cultured cells from the submitted tissue sample. Formalin-fixed tissue sample is currently NOT accepted this test. Please submit fresh tissue sample in a sterile container containing tissue transport media or sterile saline; make sure that entire tissue sample is immersed in media/saline. For POC sample (fetal autospy sample), submission of maternal blood sample is NOT required, although it is recommended to perform maternal cell contamination study. Please attach any pathology or autopsy report, even if preliminary. To obtain a copy of the requisition form, please call the laboratory at (614) 722-5321.

Microarray analysis evaluates DNA copy number across the genome at higher resolution than routine chromosome analysis. It can detect submicroscopic genomic imbalances not detectable by routine chromosome analysis, as well as large imbalances detectable by routine chromosome analysis (e.g. trisomies and monosomies). Microarray analysis can be used as a companion test to chromosome analysis (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 chromosome, 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