FISH ANALYSIS TUPLE1

General Information

HLAB/HOL Code: FISH
UPHSM LIS Test #: 1534
Schedule: Monday - Friday
Testing Time: 3-5 Days
Testing Lab: UP Health System-Marquette

Specimen Info
Only 1 specimen type required, unless otherwise specified

Volume: 5.0 mL of Na Heparin Whole Blood
Temperature: Ambient
Tube Type: Blood
Collection Info:
Prefer a minimum of 5.0 mL of blood. Draw blood 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 the patient's name and a unique identifying number (MGHS encounter # or MR #). Maximum time from collection should be 48 hours.
SPECIMENS CANNOT BE FROZEN
Note:
If patient is an infant, please send at least 1 mL of whole blood.

Methods

Includes metaphase and interphase set-up and analysis.
Ten metaphases and 200 interphase nuclei will be analyzed.

Clinical Utilities

Detections of TUPLE1 gene deletion at 22q11.2 or duplication at 22q11.2 associated with Velo-cardio-facial Syndrome or DiGeorge Syndrome.

CPT Codes

88271 x 2, 88273, 88275, 88291,
88230 (as needed, at additional charge)

* 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

An interpretive report will be provided