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Laboratory Test Directory

Chromosome Analysis, Tissue (Postnatal, POC, or Autopsy) (Updated)

Components

Name Method Department Units
Tissue Chromosome Analysis Chromosomal analysis
Cell Culture
Cytogenetics

Specimen Requirements

Skin biopsy

Container Type Container Size Specimen Volume
Preferred

Tissue culture transport media

N/A 3 mm-7 mm diameter
Alternate

Sterile container with saline

N/A 3 mm-7 mm diameter
Alternate

Ringer's lactate solution in sterile container

N/A 3 mm-7 mm diameter
Stability

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

Specimen Preparation

  • Do not add fixative
  • Do not freeze
  • Keep at room temperature
  • Do not formalin fix the sample
  • Transport to laboratory as soon as possible

Tissue (Fresh)

Container Type Container Size Specimen Volume
Preferred

Tissue culture transport media

N/A 5mm x 5mm or larger
Alternate

Sterile container with saline

N/A 5mm x 5mm or larger
Alternate

Ringer's lactate solution in sterile container

N/A 5mm x 5mm or larger
Stability

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

Specimen Preparation

  • Do not add fixative
  • Do not freeze
  • Do not formalin fix the sample
  • Transport to laboratory as soon as possible
  • Keep at room temperature or refrigerate

Reasons for Rejection

  • Fixed specimen
  • Frozen specimen
  • Delayed or improper handling
  • Formalin Fixed Tissue

Comments

Submission of a completed Test Requisition Form is required: For postnatally obtained fresh tissue sample (e.g. skin biopsy, surgical specimen, or tissue obtained from autopsy), please complete the Genetic Test Requisition Form ; For products of conception (POC) tissue sample, please use POC Test Requisition Form. Please call Cytogenetics lab at (614) 722-5321 if requisition form or tissue transport media is needed. For skin biopsy performed on the Nationwide Children's Main Campus (700 Children's Drive), Cytogenetics Lab can supply a skin biopsy kit -- please contact at least 24 hours in advance to arrange. 

Collected tissue sample should be placed in a sterile container containng tissue transport media or sterile saline, and tissue should be completely immersed in the media/saline. DO NOT freeaze or expose to formalin or other fixatives. Transport the specimen to the laboratory as soon as possible at room temperature. Sample may be refrigerated if specimen must be stored overnight.

This test evaluates chromosomes in 20 cultured cells from tissue sample. This test is used to evaluate for numerical and structural chromosomal abnormalities in tissue specimen, such as the presence/absence of aneuploidies, chromosome translocations, and chromosome inversions. Turnaround time for results varies depending on the rate of cell growth in culture. If evaluation of extra cells (beyond the routine 20 cells) is desired to rule out a low-level mosaicism for a chromosome abnormality, please request "Mosaicism Study" on the lab order and 50 cells will be evaluated at extra charge.

If patient has a family history of known chromosome abnormality, please provide the family member's chromosome result information (attach a copy of test result if available). If the proband was tested at Nationwide Children's Hospital Cytogenetics Laboratory, please provide the proband name, date of birth, and accession number (if available).

If cryopreservation of cultured cells and/or additional in-house or send-out testing on cultured cells is desired, please clearly indicate this on the lab order. Otherwise, cultured cells will be discarded 2 weeks after the tissue chromosome analysis result is issued. If additional testing is desired on cultured cells, then call Cytogenetics Lab and speak to a laboratory genetic counselor to coordinate additonal testing. If Tissue Culture Only (no chromosome analysis) is desired, please see test code: TCULT.

Common indications for this testing include:

  • Evaluating for presence of mosaicism for chromosomal abnormality in patients who previously had normal blood chromosome analysis but clinically demonstrates signs of chromosomal abnormality.
  • Evaluating chromosomes in patients who had allogenic bone marrow transplant since these patients' blood sample represent bone marow donor sample rather than the patient's germline sample.
  • Evaluating for chromosome abnormality in products of conception tissues obtained from spontaneous or therapeutic abortions to investigate possible cause of pregnancy loss or fetal abnormalities.
  • Evaluating for chromosome abnoramality in autopsy samples where patients demonstrate multiple congenital abnormalities or other signs of chromosome abnormality.

For ANY FETAL TISSUE SAMPLE greater than or equal to 20 weeks 0 day gestation, DISPOSITION OF UNUSED SPECIMEN section must be completed on the POC Requisition Form. If sufficient tissue sample is submitted (greater than 10mm cube of POC tissue), then POC microarray analysis will be available if tissue culture fails . Long-standing fetal demise, delayed specimen transport, and improper handling can increase the risk of tissue culture failure, which leads to no chromosome result.

CPT Code

  • 88233
  • 88262