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Paediatric Laboratory Medicine

Hereditary Spastic Paraplegia: X-Linked

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: X-Linked

Alternate Name/ Synonym

Hereditary Spastic Paraplegia: XL

Gene Name

  • L1CAM
  • PLP1
  • SLC16A2

Alternate Gene Name

HSAS1, SPG1, HSAS, MASA, MIC5, S10, CD171, SPG2, PLP, GPM6C, DXS128, AHDS, MRX22, XPCT, MCT8, MCT7

Test Code

HSP-Panel 3

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)

Specimen Type

Blood; please contact the Genome Diagnostics 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)

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