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Paediatric Laboratory Medicine

Hereditary Spastic Paraplegia: Autosomal Recessive

Background

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 Recessive

Alternate Name/ Synonym

Hereditary Spastic Paraplegia: AR

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

Test Code

HSP-Panel 2

Division

Molecular Genetics

Method

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

CAP

Turn Around Time

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

Disease/Condition

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)

Storage/Transportation

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. 

Interpretation

Provided with report