MODY Neonatal Diabetes Panel

MODY Neonatal Diabetes Panel

  • Neonatal diabetes mellitus (NDM) is a rare form of diabetes that is likely to have a monogenic cause, particularly when diagnosed before 6 months of age (1). NDM is a relatively rare disorder that affects approximately 1:215,000 to 1:260,000 live births. Approximately 50% of the NDM cases are transient (TNDM) (2, 3). In contrast, permanent NDM (PNDM) cases need continual treatment after diagnosis. Clinical manifestations include intrauterine growth retardation (IUGR), hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Although the majority of cases of neonatal diabetes involve isolated diabetes, many of the known monogenic causes are characterized by a variety of syndromic features. In addition, maturity onset diabetes of the young (MODY) is defined by the clinical features of early-onset Type 2 (non-insulin-dependent) diabetes, and is more common than NDM and usually occurs in children or adolescents but may be mild and not detected until adulthood. It is predicted that MODY accounts for approximately 1-2% of all diabetes cases in the UK population. Genetic testing is important because it helps determine which type of MODY or neonatal diabetes a person has, and what the most appropriate treatment would be. Genetic testing can also help by supporting the clinician’s advice regarding current and future management of the diabetic condition of the patient, and assessment of inherited risks of other related family members (2). There is a 50% chance of a parent passing on MODY to their child (1).
  • Genes (30): ABCC8, AKT2, BLK, CEL, CISD2, CP, EIF2AK3, FOXP3, GATA6, GCK, GLIS3, GLUD1, HADH, HNF1A, HNF1B, HNF4A, IER3IP1, INS, INSR, KCNJ11, KLF11, NEUROD1, NEUROG3, PAX4, PDX1, PTF1A, RFX6, SLC2A2, WFS1, and ZFP57
    Test Code: 4045
    Clinical Indications:
    • Molecular confirmation of a clinical diagnosis in symptomatic patients.
    • Assessment for at-risk family members
    Test Info Sheet: MODY Neonatal Diabetes Panel
    Requisition: Contact ApolloGen Diagnostic Laboratory
  • Turn-Around Time: 4 Weeks
    Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
    Other Specimens: See details here
  • CPT Codes: 81403×1, 81404×2, 81405×2, 81406×3, 81407×1, 81479×20
    Pricing: Please contact us at (949) 916-8886 or inquiries@apollogen.com
  • Methodology: Next-Generation Sequencing (NGS)
    Related Tests:
    Diabetes and Obesity Panel
    Hyperinsulinism Panel
  • References:
    1. https://www.diabetes.org.uk/Guide-to-diabetes/What-is-diabetes/Other-types-of-diabetes/MODY/
    2. http://www.diabetesgenes.org/content/maturity-onset-diabetes-young

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