Hurler Syndrome

Tests Available

Forms and Documents

Test Details

IDUA
  • Molecular confirmation of a clinical diagnosis.
  • Testing of patients suspected of having Mucopolysaccharidosis Type I.
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.

Ordering

T386
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81406x1
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. Scott et al. (2013) The Journal Of Pediatrics 163 (2):498-503 (PMID: 23465405)
  2. Clarke LA. Mucopolysaccharidosis Type I. 2002 Oct 31 [Updated 2016 Feb 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.n
  3. Stenson et al. (2014) Human genetics 133 (1):1-9 (PMID: 24077912)
  4. Breen et al. (2016) Hum Genome Var 3 :16031 (PMID: 27766162)
  5. Terlato et al. (2003) Genet. Med. 5 (4):286-94 (PMID: 12865757)
  6. Bertola et al. (2011) Hum. Mutat. 32 (6):E2189-210 (PMID: 21394825)
  7. Beesley et al. (2001) Hum. Genet. 109 (5):503-11 (PMID: 11735025)