MODY Panel by Massively Parallel Sequencing (BCM-NGS℠)

Casandra

Casandra Test Code BA99801Version 1 (DRAFT)

Performing Lab

Lab Baylor GeneticsLab Test ID 21900CPT Codes 81403, 81404, 81405, 81406, 81407, 81479

MODY Panel by Massively Parallel Sequencing (BCM-NGS℠)

Clinical Use

Use

The MODY Panel is designed to assess 25 genes associated with maturity-onset diabetes of the young (MODY). This condition is characterized by individuals typically presenting in early adulthood with symptoms such as high blood sugar, excessive urination and thirst, and fatigue. If untreated, persistent high blood sugar can lead to serious complications including vision loss and kidney damage. Some MODY subtypes are linked to an increased risk of benign liver tumors. Diagnosis can aid in management and prevention strategies for at-risk individuals.

Special Instructions

This test is indicated for individuals with a clinical or suspected diagnosis of maturity-onset diabetes of the young. It is also recommended for symptomatic patients with a family history of MODY. Testing provides essential insights for effective management and treatment planning. Ensure to refer patients with relevant symptoms for appropriate evaluation and genetic counseling if necessary.

Limitations

This analysis does not detect genomic structural rearrangements (e.g., deletions, duplications, and inversions) or large insertion mutations. It is also unable to identify mutations within promoter regions or deeply intronic areas. Variants are confirmed using Sanger sequencing, which may not capture all genetic abnormalities.

Test Details

New York Approved