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, mental retardation, growth retardation, infertility, cryptorchidism, hypogonadism, amenorrhea (primary), abnormal/ambiguous genitalia, recurrent miscarriage, Turner syndrome, Klinefelter syndrome, Down syndrome, and other suspected chromosomal disorders.

Reference Range *

Interpretive report provided.

Test Limitations

Failure of cells to grow in culture precludes analysis.

Test Details
Days Set Up
Monday - Friday, 8:00am - 4:00pm. If necessary a STAT courier may be arranged for processing a sample on a priority basis. Call the laboratory at 763-5805 for additional information.
Analytic Time

3 - 4 weeks

Soft Order Code
MiChart Code
Cytogenetics, Chromosome Analysis/Karyotype, Blood for Genetic Disorder (No
  • 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
Clotted or hemolyzed specimen, or specimen over 24 hours old
Additional Information

Appropriate FISH testing will be performed at an additional charge when indicated. FISH testing is available for a wide range of microdeletion syndromes, such as DiGeorge, Prader-Willi, Angelman, Smith-Magenis, Miller-Dieker, and William's Syndrome, as well as for chromosome derivatives or markers (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 will 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
Fee Code
36501 Chromosome Analysis, 36540 Tissue Culture
NY State Approved