CHROMOSOME ANALYSIS CONGENITAL BLOOD

General Information

HLAB/HOL Code: CYG
UPHSM LIS Test #:
Schedule: Monday-Friday
Testing Time: 3 - 7 days
Testing Lab: UP Health System-Marquette

Specimen Info
Only 1 specimen type required, unless otherwise specified

Volume: 5.0 mL Whole Blood
Temperature: Ambient
Tube Type: 1 Green Top (Sodium Heparin)
Collection Info:
Prefer a minimum volume of 5.0 mL of blood. Draw into green-top (sodium heparin) tube(s), invert several times to mix (clotted blood will not work). Other anticoagulants may be harmful to the viability of the cells. Label vial with patient's name and a unique identifying number
(MGHS encounter #, MR#). Maximum time from collection should be 48 hours.
SPECIMENS CANNOT BE FROZEN.

Methods

Includes GTG banding, 20 metaphases, 5 analyzed, and 2 karyogrammed, including at least one metaphase of representative length and banding for the case. Standard analysis must be at least 550 bands. Further studies, including FISH techniques, may b

Clinical Utilities

Routine peripheral blood chromosome analysis can be useful in the following instances: sexual ambiguity, mosaic studies, multiple miscarriages, and infertility. Please order high resolution analysis (see Chromosome Analysis, High Resolution, Blood) for the following  conditions: congenital anomalies, mental retardation(MR), growth retardation, developmental delay (DD), dysmorphic features, phenotype suggestive of microdeletion syndromes, positive family history of abnormal pregnancy outcome, and autisitic
spectrum disorders (ASD).

Mosaic Studies:
Please indicate mosaic study when necessary (eg. Turner syndrome).  If possible, specify the number of  additional cells to be counted. Additional charges may apply.

CPT Codes

88230 (tissue culture, lymphocyte), 88262 (chromosome analysis, 15-20 cells), 88291 (interpretation and report). In addition the following CPT codes may be added as needed: 88280 (additional karyotypes), 88285 (additional cells), 88261 (Family screening for previously diagnosed abnormality; 5 cells and 1 karyotype).

* The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding
is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Reference Range

46,XX, or 46,XY. No apparent abnormality.