Chromosome Analysis, Whole Blood (Constitutional)

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Turnaround Time: 5 - 13 Days
Test Type: 5 mL (Adult) 2 mL (Neonate) Whole Blood


Use: 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 chromosomal disorders

Methodology: Lymphocyte culture with mitogen stimulation, colchicine arrest of cells in mitosis with predominantly early metaphases, methanol/acetic acid fixation, spread preparation, trypsin-Giemsa banding, chromosome analysis of 20 metaphases with preparation and analysis of multiple karyotypes. Other banded preparations are made as needed. Fluorescence in situ hybridization (FISH) ordered as needed (see test 510770).

Contraindications: Not for stillborn cases, skin biopsy, or placental villi.

Collection Details:

Collection Instructions:

Specimen: Whole blood

Volume: 5 mL (adult), 1 to 2 mL (neonate)

Minimum Volume: 2 mL

Container: Green-top (sodium heparin) tube

Collection: Venipuncture: Thoroughly cleanse the area with a Betadine® scrub or similar preparation followed by a rinse with 70% alcohol (ethanol may be used instead of isopropyl and is less toxic). Collect 1 to 10 mL of blood into a heparinized tube. Invert the tube several times to prevent coagulation. If a Vacutainer® is used, let off any remaining vacuum by inserting a hypodermic needle or loosening the top briefly.

Skin lancet puncture: Thoroughly cleanse the site (finger, earlobe or newborn child's heel) by the above method. Rinse a sterile Pasteur pipet or TB syringe with approximately 0.5 mL of sterile heparin, and aspirate blood into it. Care must be taken to use only blood within the sterilized site; dripping blood may be removed with a sterile gauze pad. The blood-heparin mixture may be placed into a sterile tube for transport.

Specimens must be sent the same day as collected and arrive in the laboratory Monday through Saturday and within 72 hours of collection.

Storage Instructions: Specimen should be sent to the laboratory immediately. Maintain specimen at room temperature. Specimens may be refrigerated if there is a delay in shipment. Do not freeze.

Causes for Rejection: Hemolysis; specimen clotted; use of improper anticoagulant; frozen specimen. Upon receipt, the suitability of blood specimen will be made at the Cytogenetics laboratory.