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Paediatric Laboratory Medicine

Hereditary Spastic Paraplegia: Comprehensive Testing


See related pages for information sheets on Hereditary Spastic Paraplegia

Clinical Significance

See related pages for information sheets on Hereditary Spastic Paraplegia

Test Name

Hereditary Spastic Paraplegia: Comprehensive Testing

Alternate Name/ Synonym

Hereditary Spastic Paraplegia: AD, AR and XL

Gene Name

  • ALDH18A1
  • ATL1
  • BSCL2
  • C10orf2
  • HSPD1
  • KIAA0196
  • KIF5A
  • NIPA1
  • POLG
  • POLG2
  • REEP1
  • RTN2
  • SLC33A1
  • SETX
  • ALS2
  • AP4B1
  • AP4E1
  • AP4M1
  • AP4S1
  • AP5Z1
  • C10orf2
  • C12orf65
  • C19orf12
  • CYP2U1
  • CYP7B1
  • DDHD1
  • DDHD2
  • ENTPD1
  • ERLIN1
  • ERLIN2
  • FA2H
  • GBA2
  • GJC2
  • KIF1A
  • KIF1C
  • NT5C2
  • PGAP1
  • PNPLA6
  • SACS
  • SPG11
  • SPG20
  • SPG21
  • SPG7
  • TECPR2
  • VPS37A
  • ZFYVE26
  • L1CAM
  • PLP1
  • SLC16A2

Alternate Gene Name

GSAS, PYCS, SPG3, SPG3A, GNG3LG, SPG17, IOSCA, SPG13, SPG8, SPG10, SPG6, C2orf23, SPG4, SPG12, ACATN, SPG42, ALS4, SCAR1, ALS2CR6, SPG47, KIAA0415, IOSCA, SPG43, SPG5A, SPG28, SAMWD1, CD39, C10orf69, SPFH1, C8orf2, SPFH2, Erlin-2, FAXDC1, SPG35, SPG46, GJA12, ATSV, C2orf20, SPG30, SAX2, NT5B, KIAA1840, CMAR, KIAA0329, PQBP2, SPG15, HSAS1, SPG1, HSAS, MASA, MIC5, S10, SPG2, PLP, DXS128, AHDS, MRX22

Test Code



Molecular Genetics


Sequencing (all genes) by Next Generation Sequencing. Deletion & duplication analysis is also available for the genes on this panel. Please see Hereditary Spastic Parapalegia: Deletion & Duplication analysis

External Proficiency Testing


Turn Around Time

4-6 weeks (Pregnant or Urgent), 8-10 weeks (Routine)


Hereditary Spastic Paraplegia

Specimen Type

Blood; please contact the Genome Diagnositcs Laboratory if you want to send gDNA.

For details about specimen requirements, please refer to: Specimen Types & Requirements (PDF).

Minimum Specimen Requirements

5-10 mL EDTA or ACD
0.5 mL EDTA (neonate); minimum 10 ug of DNA in 100 uL low TE (pH8.0)


If sample shipment  >48 hours, ship on ice.

Special Requirements

Special Instructions for Genome Diagnostics Samples

Please ship us the blood sample within 48 hours of collection.


Provided with report