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Cytogenetics Laboratory Tests

Cytogenetics is a specialized area of laboratory medicine that focuses on the study of chromosomes—the structures within cells that carry genetic information. By examining the number, size, shape and arrangement of chromosomes, cytogenetic testing helps identify genetic changes that may affect health, development or disease.

In clinical care, cytogenetic analysis is used to evaluate inherited genetic conditions, prenatal chromosomal abnormalities and acquired changes associated with cancers and blood disorders.

All specimens must include a cytogenetics requisition form for testing.

Blood

Bone Marrow

Fibroblast

Molecular Cytogenetic Analysis/Flourescent In Situ Hybridization

Prenatal

Selected Tumors

Blood

Test Includes: Banded chromosome karyotype

Specimen Requirements:

  • Blood:  Place 5 mL of blood into a sodium heparin green top tube and mix well to prevent clotting. 
  • Pediatric samples: A minimum volume of 1-2 mL is necessary for prophase karyotype.  Should be refrigerated for overnight storage.  Do not spin.

CPT Code: 88230, 88262, 88289

Synonyms: Karyotype, Chromosome, Genetic study

Testing Schedule: Monday - Friday 08:30 a.m. - 4:30 p.m. Turnaround time: 2-4 weeks.

Special Instructions:

  • Fluorescent In Situ Hybridization can be performed on this sample if requested.

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Bone Marrow

Test Includes: Banded chromosome karyotype

Specimen Requirement:
Bone Marrow

  • Minimum 1cc bone marrow aspirate heparinized (if drawing into a syringe, heparinize the syringe prior to procedure; can then be transferred to a green top  tube). 
  • A peripheral blood sample may be used. 
  • Five mL of blood in a sodium heparin green top well mixed is adequate. 
  • Should be refrigerated for overnight storage.

CPT Code: 88237, 88262, 88289

Synonyms: Karyotype, Chromosome, Genetic study

Testing Schedule: Monday - Friday 08:30 - 16:30.  Turnaround time: 1-2 weeks.

Special Instructions:

  • Fluorescent In Situ Hybridization can be performed on this sample if requested.

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Fibroblast

Test Includes: Banded chromosome karyotype

Specimen Requirement:

  • Tissue sources such as skin, pericardium, and products of conception. 
  • A small sample of the tissue should be obtained as sterilely as possible and placed in media (Hanks balanced salt solution, RPMI, etc., or if media is not available, sterile saline). 
  • Sterile biopsy or tissue from surgical or autopsy specimen placed in a 10 cc tube of culture media, a 2 mm punch biopsy, or equivalent size.  Should be refrigerated for overnight storage.

CPT Code: 88262

Synonyms: Karyotype, Chromosome, Genetic study

Testing Schedule: Monday - Friday 08:30 - 16:30.  Turnaround time: 4-6 weeks.

Special Instructions:

  • Fluorescent In Situ Hybridization can be performed on this sample if requested.

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Molecular Cytogenetic Analysis/Fluorescent In Situ Hybridization

Test Includes: In Situ hybridization of specific DNA probes to interphase cells or metaphase preparations.

Specimen Requirement: Blood, bone marrow, prenatal samples, fibroblast, and tumor as submitted for cytogenetics studies.  Minimum volume: same as submitted for cytogenetics studies.

CPT Code: 88271 and one of these:  88272, 88273, 88274, 88275

Synonyms: Molecular cytogenetic study, probe, Fluorescent In Situ Hybridization, FISH

Testing Schedule: Monday - Friday 8:30 a.m. - 4:30 p.m.  Turnaround time: 3 days - 3 weeks (Non-STAT samples are batched).

Special Instructions:

  • Check with the laboratory regarding the availability of probes. 

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Prenatal

Test Includes: Banded chromosome karyotype

Specimen Requirement:

  • 20-30 mL of amniotic fluid; 20-100 mg of villi. 
  • Do not refrigerate an amniotic fluid sample, but refrigerate the villi for overnight storage.

CPT Code: 88235, 88261, 88269, 88280, 88285

Synonyms: Karyotype, Chromosome, Genetic study

Testing Schedule: Monday - Friday 8:30 a.m. - 4:30 p.m.  Turnaround time: 1-3 weeks.

Special Instructions:

  • Fluorescent In Situ Hybridization can be performed on this sample if requested.

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Selected Tumors

Test Includes: Banded chromosome karyotype

Specimen Requirement:

  • Small fresh tumor samples placed in media or sterile saline. 
  • Should be refrigerated for overnight storage.

CPT Code: 88262

Synonyms: Karyotype, Chromosome, Genetic study

Testing Schedule: Monday - Friday 8:30 a.m. - 4:30 p.m. .  Turnaround time: 2-3 weeks.

Special Instructions:

  • Fluorescent In Situ Hybridization can be performed on this sample if requested.

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Medical Labs