Hereditary Spastic Paraplegia NGS panel

Genes
(full
coding region):		 ALDH18A1, ALDH3A2, AMACR, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ATAD3A, ATP2B4, ATL1, B4GALNT1, BICD2, BSCL2, BTD, CPT1C, CYP27A1, CYP2U1, CYP7B1, C19orf12, DDHD1, DDHD2, ENTPD1,ERLIN1, ERLIN2, FA2H, GAD1, GBA2, GBE1, GJC2, HSPD1, IBA57, KIF1A, KIF1C, KIF5A, KLC2, KLC4, L1CAM, MARS1, MTHFR, MTRFR, NIPA1, NT5C2, PAH, PEX1, PGAP1, PLA2G6, PLP1, PNPLA6, REEP1, REEP2, RTN2, SLC16A2, SLC25A15, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG7, USP8, ZFYVE26, TECPR2, TFG, TH, TUBB4A, WASHC5, WDR48, VPS37A

List of diseases covered by the panel
Non-coding variants: List of non-coding variants covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
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.
Ordering information: Go to online ordering or download sample submission form

Targeted mutation analysis

Genes: MT-ATP6
No of
detectable
markers:		 1 (m.9176T>C)
Lab method: Sanger sequencing
TAT: 1-2 weeks
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.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: ATL1, SPAST, SPG7, REEP1
Lab method: MLPA
TAT: 4-6 weeks
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.
Ordering information: Go to online ordering or download sample submission form

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.