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Comprehensive Hereditary Spastic Paraplegia Panel

New York
Approved


Genes

ABCD1, ACO2, ADCY5, ALDH18A1, ALDH3A2, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARL6IP1, ARSA, ATL1, ATP13A2, B4GALNT1, BSCL2, BTD, C12orf65, C19orf12, CYP27A1, CYP2U1, CYP7B1, DDHD1, DDHD2, ENTPD1, ERLIN1, ERLIN2, EXOSC3, FA2H, FAR1, FARS2, GALC, GBA2, GBE1, GCH1, GJA1, GJC2, IBA57, IFIH1, KIAA0196, KIF1A, KIF1C, KIF5A, L1CAM, MMACHC, MTHFR, NFU1, NIPA1, NT5C2, OPA3, PEX16, PLA2G6, PLP1, PNPLA6, POLR3A, PTS, RAB3GAP2, REEP1, REEP2, RNASEH2B, SACS, SERAC1, SLC16A2, SLC19A3, SLC25A15, SLC33A1, SPAST, SPG11, SPG20, SPG21, SPG7, SPR, TECPR2, TFG, TH, TUBB4A, UCHL1, VPS37A, VPS53, ZFYVE26

Conditions

  • Hereditary Spastic Paraplegia - Inborn Errors of Metabolism
  • Complicated Hereditary Spastic Paraplegias
  • Hereditary Spastic Paraplegia (HSP)
  • Uncomplicated Hereditary Spastic Paraplegias

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/management decisions

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

941

CPT Codes*

81404x1, 81405x1, 81406x2, 81407x2

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.