Test Overview
Test Methodology

Stimulated lymphocyte culture and chromosome analysis. Fluorescence In Situ Hybridization (FISH) when indicated.

Test Usage

Evaluation of congenital malformations, still birth, infertility, hypogonadism, amenorrhea (primary), abnormal/ambiguous genitalia, recurrent miscarriage, Turner syndrome, Klinefelter syndrome, Down syndrome, and other suspected chromosomal disorders.

Reference Range *

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Test Limitations

Failure of cells to grow in culture precludes analysis.

Test Details
Days Set Up
Monday - Friday, 8:00am - 4:00pm. Call the laboratory at 763-5805 for additional information.
Analytic Time

2-3 weeks

Soft Order Code
MiChart Code
Cytogenetics, Chromosome Analysis/Karyotype, Blood for Genetic Disorder (Non-Malignant)
  • Cytogenetics, Blood, Constitutional
  • Karyotype, Routine
  • Karyotype, Peripheral Blood
  • Chromosome Analysis for Congenital Disorders
  • TCL
  • Chromosome Analysis, Peripheral Blood for Genetic Disorder (Non-malignant)
Specimen Requirements
Collection Instructions

Specimen transport should be arranged so that the specimen is received by MLabs the same day it is collected. Call for a STAT courier if necessary. Collect specimen in a green top (sodium heparin) tube. Invert the tube several times to prevent clotting. Send the specimen intact at room temperature as soon as possible. DO NOT CENTRIFUGE.

Normal Volume
5 mL whole blood
Minimum Volume
2 mL whole blood
Rejection Criteria
Hemolyzed, formalin fixed, frozen or grossly contaminated specimens.
Additional Information

Appropriate FISH testing will be performed at an additional charge when indicated. FISH testing is available for microdeletion syndromes such as DiGeorge, Prader-Willi, and Angelman Syndrome, as well as for chromosome derivatives or marker chromosome (extra chromosome, part of a chromosome, or unbalanced translocation). For additional information on FISH testing and available probes, contact the Cytogenetics Laboratory. When chromosome analysis is requested to rule out certain conditions such as Turner syndrome (when indicated based on initial diagnosis) or suspected mosaicism, an additional cell count and/or special stains may be performed at an additional charge. By ordering this test the clinician acknowledges that additional reflex testing will be performed and billed at a separate additional charge if indicated.

CPT Code
88262 Chromosome Analysis, 88230 Tissue Culture, if necessary 88285 Additional Cell Count
Fee Code
EA039 Chromosome Analysis, 36540 Tissue Culture, if necessary Additional Cell Count