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Paediatric Laboratory Medicine

Hereditary Spastic Paraplegia: Autosomal Dominant


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: Autosomal Dominant

Alternate Name/ Synonym

Hereditary Spastic Paraplegia: AD

Gene Name

  • ALDH18A1
  • ATL1
  • BSCL2
  • HSPD1
  • KIF5A
  • NIPA1
  • POLG
  • POLG2


  • REEP1
  • RTN2
  • SLC33A1
  • SETX
  • TWNK
  • WASHC5

Alternate Gene Name

GSAS, PYCS, SPG3, SPG3A, GNG3LG, SPG17, IOSCA, SPG13, SPG8, SPG10, SPG6, C2orf23, SPG4, SPG12, ACATN, SPG42, ALS4, SCAR1, C10orf2, KIAA0196

Test Code

HSP-Panel 1


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 Diagnostics Laboratory if you want to send gDNA. If sending a prenatal sample, please contact the laboratory prior to sending sample to discuss sample requirements.

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