Monogenic Diabetes (MODY) 5-Gene Evaluation

Test Code

92344

CPT Codes
81404 (x2), 81405 (x2), 81406 (x2), 81479<br>Limited Access Code

Physician Attestation of Informed Consent

This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.

Includes

Genes included: GCK, HNF4A, IPF1, HNF1A, HNF1B

Preferred Specimen

8 mL whole blood collected in two EDTA (lavender-top) tubes, or
Pediatric volume: 2 mL whole blood

Minimum Volume

6 mL • 1 mL pediatric

Instructions

Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients 0-3 years have higher WBC, yielding more DNA per mL of blood.

Transport Container

EDTA (lavender-top) x2

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable

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

Received frozen

Methodology
Sanger Sequencing • Multiplex Ligation-dependent Probe Amplification (MLPA)

FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule

Set up: Varies; Report available: 14-28 days

Reference Range

No sequence variation or deletion detected

Clinical Significance

Detects deletions in the HNF4A, GCK, HNF1A, HNF1B genes and mutations in the HNF4A, GCK, HNF1A, HNF1B and IPF1

Typical Presentation: Non-ketotic hyperglycemia in non-obese individuals of any age

Indications for testing: Non-ketotic insulin-sensitive hyperglycemia in individuals of any age; Family history of diabetes.

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.