Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel

Forms and Documents

Test Details

ABCD1, ARG1, ARSA, BTD, CYP27A1, GALC, GBE1, GCH1, MMACHC, MTHFR, OPA3, PTS, SLC19A3, SPR, TH
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/management decisions
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

944
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81291x1, 81404x2, 81405x2, 81406x2, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Lo Giudice et al. (2014) Exp Neurol 25: 518-39.
  2. Finsterer et al. (2012) J Neurol Sci 318 (1-2): 1-18.
  3. Fink JK. Hereditary Spastic Paraplegia Overview. 2000 Aug 15 [Updated 2014 Feb 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nl
  4. Fink JK (2014) Semin Neurol 34: 293-305.
  5. Fink JK (2013) Acta Neuropathol 126(3): 307-328.