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Hereditary Spastic Paraplegia: Autosomal Recessive
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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
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).
- Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
- DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Blood-Room Temperature. Please contact the Genome Diagnostics Laboratory if you want to send gDNA.
If sample shipment >48 hours, ship on ice.
Special Instructions for Genome Diagnostics Samples
Please ship us the blood sample within 48 hours of collection.
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:
Hereditary Spastic Paraplegia, Autosomal Recessive
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