Constitutional Chromosome Analysis

Test name:
Constitutional Chromosome Analysis

Order name:
Chromosome constitutional request

Specimen requirements:
Sodium heparin peripheral blood

Minimum volume:
1 ml, 4mL preferred

Storage and Stability information:
Room temperature. Transport to lab within 1 day of collection

Test performed:
Turnaround time 7-10 days

Methodology:
Microscopy, karyotype analysis

Reference range:
See report

Clinical significance:
Cytogenetic analysis of peripheral blood lymphocytes is performed to detect numerical or structural chromosome abnormalities. Indications include multiple congenital anomalies, mental retardation of unknown etiology, abnormalities of growth or sexual development, and features of a recognized genetic syndrome.  Chromosome analysis may also be warranted in individuals with infertility or recurrent pregnancy loss.

CPT codes:
88237 x 2, 88262