Known Mutation Testing (KT2)

Test Code

11552

CPT Codes
81403<br>This test is not available for New York patient testing<br>Limited Access Code

Preferred Specimen

6 mL whole blood collected in EDTA (lavender-top) tube

Minimum Volume

3 mL whole blood • 25 uL at 3 ug extracted DNA

Other Acceptable Specimens

Saliva collected in OGR-575 DNA Genotek (kits are provided upon request) • DNA (extracted from lymphocyte cells; a minimum volume of 25 uL at 3 ug; O.D. of 260:280nm > or = 1:8; must be extracted in a CLIA or equivalent certified lab)

Instructions

Specimens must be packaged to prevent breakage and absorbent material must be included in the package to absorb liquids in the event that breakage occurs. Also, the package must be shipped in double watertight containers (e.g. a specimen pouch + the shipping company's diagnostic envelope).

Test Requisition Form
Note: Detailed and accurate completion of this document is necessary for reporting purposes. The Medical Genomics Laboratory issues its clinical reports based on the demographic data provided by the referring institution on the lab requisition form. It is the responsibility of the referring institution to provide accurate information. If an amended report is necessary due to inaccurate or illegible documentation, additional reports will be drafted with charge.

Transport Temperature

Room temperature

Specimen Stability

Room temperature: Not established
Refrigerated: Not established
Frozen: Not established

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

No label (patients full name and date of collection) on the specimens • No referring physician's or genetic counselor's names and addresses • No billing information • DNA samples must be extracted in a CLIA or equivalent certified lab

Methodology
Radioimmunoassay • Multiplex Ligation-dependent Probe Amplification • Fluorescence In Situ Hybridization

FDA Status
This test was developed and its performance characteristics determined by the Medical Genomics Laboratory. It has not been cleared or approved by the FDA. The laboratory is regulated under CLIA as qualified to perform high-complexity testing. This test is use for clinical purposes. It should not be regarded as investigational or for research.

Setup Schedule

Set up: Varies; Report available: 10 working days

Reference Range

See Laboratory Report

Clinical Significance

Patients who want to prepare for prenatal/pre-implantation diagnosis and for predictive testing for individuals at risk of inheriting an already known variant.

The CPT Codes provided in this document 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 payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.