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.
  • Capillary Sequencing

Ordering

T386
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
* For price inquiries please email zebras@genedx.com

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)