Monogenic Diabetes Panel

Casandra

Casandra Test Code PG29888Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 4303CPT Code 81479

Monogenic Diabetes Panel

Clinical Use

Use

This test is intended for individuals with relevant features who have a clinical or suspected diagnosis of monogenic diabetes. It is specifically for individuals diagnosed with diabetes before age 25 with continued endogenous insulin production or those diagnosed within the first 6 months of life. Early-onset diabetes (before age 40) previously diagnosed as type 1/type 2 is also considered for this testing.

Special Instructions

New York approved. Use the test requisition form to fax in your order if not ordering online through myPrevent. Exome-wide CNV analysis is available as an add-on with an order for any PGxome-based or custom panel, costing $250 extra.

Limitations

Tests have not been cleared or approved by the US Food and Drug Administration. Made per CAP and CLIA regulations by PreventionGenetics in Marshfield, Wisconsin. Analytical or technical constraints are not detailed, and clinical interpretation accuracy correlates with the quality of clinical information provided by the healthcare provider.

Test Details

New York Approved

Methodology

NGS (CGP)

Biomarkers

This panel analyzes 54 genes associated with monogenic diabetes using next-generation sequencing combined with Copy Number Variation (CNV) detection methodologies. Designed for individuals with a clinical or suspected diagnosis of monogenic diabetes or early-onset diabetes diagnosed before age 40.

Mutation (53 genes)

GCKHNF1AHNF1BHNF4AINSKCNJ11ABCC8HADHUCP2CELRFX6WFS1PAX4NEUROG3LMNAPDX1INSRGLIS3EIF2AK3SLC2A2GATA4GATA6GCKRHNF1BRKCNJ8KLF11MAFAMT-TL1NEUROD1PCBD1PLUTOPNKDPPARGPTF1ASLC16A1SLC19A2ZFP57CIDECBLKKCNJ11PAX6IL2RAGCGGHRGPD2GCFC2NKX6-1FTOTRMT10ATCF7L2TPITMAFASORCS1