MODY Panel by Massively Parallel Sequencing (BCM-NGS℠)
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.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Fresh)
Volume
at least 5cc for adults
Minimum Volume
3cc for children
Container
EDTA (purple-top) tube
Collection Instructions
Send at least 3cc (children) or 5cc (adults).
Storage Instructions
Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 72 hrs.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
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