Permanent Neonatal Diabetes (PND)

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

Ordering

674
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

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

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

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)