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Cytogenetics Blood Chromosome Analysis

CPT:

88230; 88262; 88291

Indications for cytogenetic analysis on blood include: dysmorphic features, failure to thrive, developmental delay and/or intellectual disability; infertility and multiple pregnancy loss; and family history of chromosome abnormality, ultrasound abnormalities for (PUBS) or family history of chromosome abnormality.

Test Details

Use

Evaluate congenital malformations, intellectual disability, growth restriction, infertility, cryptorchidism, hypogonadism, amenorrhea (primary), abnormal/ambiguous genitalia, recurrent miscarriage, Turner syndrome, Klinefelter syndrome, Down syndrome, or other suspected chromosomal disorders.

Synonyms

Karyotype; Routine G-Banding;

Pregnancy Week

14–21 Weeks
22+ Weeks

Specimen Requirements

Specimen

Whole blood

Volume

5-10 mL (adult); 2-5 mL (child - less for newborn)

Container

Green-top (sodium heparin) tube

Collection

High concentrations of heparin are toxic. Do not collect small volumes in large vacutainers or add additional heparin to specimens.

Causes for Rejection

Hemolysis; specimen clotted; use of improper anticoagulant; frozen specimen

Storage Instructions

Maintain specimen at room temperature.  Do not freeze.

Additional Information

Limitations

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