Hereditary Spastic Paraplegia

Forms and Documents

Test Details

AP4B1, AP4E1, AP4M1, AP4S1, ATL1, B4GALNT1, BSCL2, C12ORF65, CYP2U1, CYP7B1, DDHD1, DDHD2, ERLIN2, FA2H, GBA2, GJC2, KIAA0196, KIF1A, KIF1C, KIF5A, L1CAM, NIPA1, NT5C2, PLP1, PNPLA6, REEP1 (C2ORF23), RTN2, SLC16A2, SPAST, SPG11, SPG20, SPG21, SPG7, TECPR2, VPS37A, ZFYVE26
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/management decisions
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

941
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1, 81405x1, 81406x2, 81407x2
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.

Forms and Documents

Test Details

ATL1, CYP7B1, KIAA0196, KIF1A, KIF5A, NIPA1, REEP1 (C2ORF23), RTN2, SPAST, SPG11, SPG7
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/management decisions
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

942
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1, 81405x1, 81406x2, 81407x2
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.

Forms and Documents

Test Details

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

Ordering

944
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x2, 81405x3, 81406x2
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.