Hereditary Spastic Paraplegia NGS panel
Genes
(full
coding region): |
AMACR, ALDH18A1, ARG1, ATL1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, B4GALNT1, BSCL2, BTD, CYP7B1, CYP2U1, CYP27A1, DDHD1, DDHD2, ERLIN2, FA2H, GBA2, GBE1, GJC2, HSPD1, KIF1A, KIF5A, L1CAM, MTHFR, NIPA1, PAH, PEX1, PLA2G6, PLP1, PNPLA6, REEP1, RTN2, SLC16A2, SLC25A15, SPART, SPAST, SPG7, SPG11, SPG21, TECPR2, TH, VPS37A, WASHC5, ZFYVE26
List of diseases covered by the panel |
Lab method: |
NGS panel with CNV analysis |
Specimen requirements: |
2-4 ml of blood with anticoagulant EDTA
4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker. |
Targeted mutation analysis
No of
detectable
markers: |
1 (m.9176T>C) |
Lab method: |
Sanger sequencing |
Specimen requirements: |
2-4 ml of blood with anticoagulant EDTA
120 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker. |
Deletion/duplication analysis
Genes: |
ATL1, SPAST, SPG7, REEP1 |
Specimen requirements: |
2-4 ml of blood with anticoagulant EDTA
2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker. |
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Determination of differential diagnosis
3. Carrier status detection of known mutation
4. Prenatal diagnosis for known familial mutation
5. Genetic counseling
Hereditary Spastic Paraplegia (HSP) is a group of clinically and genetically heterogeneous disorders characterized by lower extremity spasticity and weakness.
HSP is classified as uncomplicated, or pure, when only spinal involvement occurs, and is classified as complicated when accompanied by other system involvement or other neurologic findings such as ataxia, seizures, intellectual disability, dementia, amyotrophy, extrapyramidal disturbance, or peripheral neuropathy.
HSP can be inherited in an autosomal dominant, autosomal recessive, x-linked recessive or maternally inherited (mitochondrial) manner.
The prevalence of all hereditary spastic paraplegias is estimated to be 2 to 6 in 100,000 people worldwide.
References:
Fink JK. Hereditary Spastic Paraplegia Overview. GeneReviews® 2000 Aug 15 (Updated 2014 Feb 6)
National Institute of Health 2008. Hereditary Spastic Paraplegia Information Page.
Sawhney IM, Bansal SK, Upadhyay PK, et al. Evoked potentials in hereditary spastic paraplegia. Ital J Neurol Sci. 1993 Sep. 14(6):425-8.