Test Directory

Chromosome analysis is performed on lymphocyte culture with mitogen stimulation, arrest of cells in mitosis using colcemid followed by fixation with acetic acid and methanol, staining the slides and analysis using MetaSystems.

Chromosome analysis is used to evaluate congenital malformations, intellectual disability, growth problems, infertility, cryptorchidism, hypogonadism, amenorrhea (primary), abnormal/ambiguous genitalia, recurrent miscarriage, Turner syndrome, Klinefelter syndrome, Down syndrome or other suspected chromosome abnormalities.

Specimen: Peripheral Blood, Cord Blood

Collection Container: Green Top (Sodium Heparin)

Alternative Collection Container: Purple Top (EDTA)

Desired Specimen Volume: 2 - 5 mL

Minimum Acceptable Volume: 1 mL

• Lithium heparin is not acceptable.
• Specimens must be collected in a sterile collection container.

Each specimen must be accompanied by a requisition form, script, electronic order or physician note. Each order must indicate the reason for testing (diagnosis).

• Transport to the laboratory at room temperature.
• Store specimen as whole blood, in original tube, at room temperature and deliver to lab within 24 hours.
• If specimen cannot be delivered within 24 hours, store in refrigerator. Do not freeze specimen.
• Specimens collected on the weekends must be refrigerated upon arrival at HNL Lab Medicine.

• Specimen frozen
• Specimen arriving without any form of patient identification (unlabeled)
• Specimen with attached needles
• Specimen arriving with broken or leaking collection tube
• Unfixed specimen treated with fixative

20 cell analysis on a G banded preparation is performed for complete evaluation.

• Chromosome Analysis
• Blood Karyotype
• Chromosome Analysis High Resolution Banding