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Hereditary Spastic Paraplegia: Autosomal Recessive

Alternate test name
Hereditary Spastic Paraplegia: AR
Gene name / Alternate gene name
  • ALDH18A1
  • ALS2
  • AP4B1
  • AP4E1
  • AP4M1
  • AP4S1
  • AP5Z1
  • C10orf2
  • C12orf65
  • C19orf12
  • CYP2U1
  • CYP7B1
  • DDHD1
  • DDHD2
  • ENTPD1
  • ERLIN1
  • ERLIN2
  • FA2H
  • GBA2
  • GJC2
  • KIF1A
  • KIF1C
  • NT5C2
  • PGAP1
  • PNPLA6
  • POLG
  • SACS
  • SPG11
  • SPG20
  • SPG21
  • SPG7
  • TECPR2
  • VPS37A
  • ZFYVE26

Alternate Gene Name

GSAS, PYCS, 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

Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment
Sequencing (all genes) by Next Generation Sequencing. Deletion & duplication analysis is also available for the genes on this panel by exon targeted microarray.
Expected turn-around time
Pregnancy/STAT: 2 weeks Routine: 6 weeks
Specimen type

Blood; gDNA. Please contact the Genome Diagnostics Laboratory if you want to send gDNA

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

Specimen requirements
  • Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate); 
  • DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Storage and transportation

Blood-Room Temperature. Please contact the Genome Diagnostics Laboratory if you want to send gDNA.

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.

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab:
Email Cytogenetics:
Background and clinical significance

Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by lower limb spasticity and weakness with hyperreflexia and extensor plantar responses. HSP is estimated to affect 1 in 20,000 individuals in the European population. Clinically, HSPs can be divided into two main groups: uncomplicated (or pure) and complicated (complex) forms. Pure HSPs are characterized by spasticity in the lower limbs; whereas complex HSP forms are characterized by the presence of additional neurological or nonneurological features. The age of symptom onset, rate of symptom progression, and extent of disability are variable both within and between HSP families.

See related information sheets:

Disease condition

Hereditary Spastic Paraplegia, Autosomal Recessive

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