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
  • 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)