Permanent Neonatal Diabetes (PND)

Tests Available

Forms and Documents

Test Details

GCK, HNF1A, HNF1B, HNF4A, PDX1
  • 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
  • ExonArray CGH

Ordering

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

Billing

81404x1, 81405x1, 81406x1
Yes
Yes
  • 648.0 Diabetes mellitus [0-4] Conditions classifiable to 249, 250 Excludes: gestational diabetes (648.8)
  • 775.1 Neonatal diabetes mellitus Diabetes mellitus syndrome in newborn infant
* For price inquiries please email zebras@genedx.com

References

  1. Gardner and Tai (2012) Diabetes Metab Syndr Obes 5:101-8.
  2. Steck and Winter (2011) Curr Opin Endocrinol Diabetes Obes 18:252-8.
  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-. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1447/
  4. Bennett (2004) Pharmacogenomics 5(4):433-8.
  5. Raile et a., (2009) Clin Endocrinol Metab 94(7):2658–64.
  6. Mefford et al., (2007) Am J Hum Genet 81(5):1057-69.