Maturity-Onset Diabetes of the Young (MODY)

Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus that follows an autosomal dominant pattern of inheritance and typically presents before the age of 25 years. MODY accounts for approximately 1-2% of diabetes mellitus and can be difficult to differentiate from the more common forms of diabetes. Differentiating factors include lack of autoantibodies usually observed with type 1 diabetes and lack of obesity often observed with type 2 diabetes. However, establishing an accurate diagnosis and identifying its genetic etiology allow for appropriate individualized management of symptoms and provide predictive and prognostic information for family members.

Tests Available

Forms and Documents

Test Details

ABCC8, APPL1, BLK, CEL, GCK, GLUD1, HADH, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1(IPF1)
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with MODY
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

674
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1, 81405x2, 81406x2, 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Gardner and Tai (2012) Diabetes Metab Syndr Obes 5:101-8 (PMID: 22654519)
  2. Steck and Winter (2011) Curr Opin Endocrinol Diabetes Obes 18:252-8. (PMID: 21844708)
  3. De León & Stanley (2008) [Updated 2011 Jul 5]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.
  4. Bennett (2004) Pharmacogenomics 5(4):433-8. (PMID: 15165179)
  5. Raile et al., (2009) Clin Endocrinol Metab 94(7):2658–64. (PMID: 19417042)
  6. Mefford et al., (2007) Am J Hum Genet 81(5):1057-69. (PMID: 17924346)
  7. McDonald et a., (2013) Ann Clin Biochem 50(5): 403-15.(PMID: 23878349)
  8. Anik et al., (2014) J Pediatr Endocrinol Metab 28(3-4): 251-63 (PMID: 25581748)
  9. Prudente et al., (2015) Am J Hum Genet 97: 177-185. (PMID: 26073777)
  10. Stanley et al. (2000) Diabetes 49 (4):667-73 (PMID: 10871207)
  11. Rahman et al. (2015) Journal Of Molecular Endocrinology 54 (2):R119-R129 (PMID: 25733449)