Neurology
Childhood Onset Hereditary Spastic Paraplegia Panel
Overview
Test Name
Childhood Onset Hereditary Spastic Paraplegia Panel
Test Code
NUE1016
Test Category
Gene Panels
Test Subcategory
Neurology
Disease(s) Targeted
hereditary spastic paraplegia
Who Is The Test For?
Patients with a family history, clinical suspicion, or diagnosis of spastic paraplegia with onset in childhood.
Test Approach
Whole exome sequencing (WES) with in silico gene panel analysis.
No. of Genes
113
Panel Content
ABCD1, ABHD16A, ACBD6, ACER3, ADAR, AFG2B, AFG3L2, AIMP1, ALDH18A1, ALDH3A2, ALS2, AMFR, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARL6IP1, ATL1, ATP13A2, B4GALNT1, BCAS3, BORCS8, BSCL2, C19orf12, CAPN1, CLDN11, CPT1C, CTNNB1, CYP27A1, CYP2U1, CYP7B1, DARS1, DDHD1, DDHD2, DDX3X, ELOVL1, ENTPD1, ERLIN1, ERLIN2, FA2H, FAR1, FARS2, FICD, FXN, GALC, GBA2, GCH1, GJA1, GLRX5, GPT2, HACE1, HECTD4, HIKESHI, HMBS, HPDL, HSPD1, IFIH1, KCNA2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KPNA3, L1CAM, LETM1, MAG, MAPK8IP3, MTRFR, NDUFA12, NIPA1, NKX6-2, NSRP1, NT5C2, OPA3, PCYT2, PLP1, PNPLA6, POLR3A, PPFIBP1, RAB3GAP2, REEP1, REEP2, RETREG1, RINT1, RNASEH2B, RNF170, RNU7-1, RTN2, SACS, SERAC1, SLC16A2, SLC1A4, SLC25A15, SLC2A1, SPART, SPAST, SPG11, SPG21, SPG7, SPTAN1, STN1, TAF8, TECPR2, TFG, TMEM63C, TUBB4A, UBAP1, UCHL1, WDR45B, ZFYVE26
Deliverables
Clinical Report (Download a sample report here)
Turnaround Time
~3-6 weeks*
Specimen Requirements
For detailed information about the sample requirements, please consult our clinical sample requirements page.
About hereditary spastic paraplegia
Early onset hereditary spastic paraplegia is a genetic disorder causing progressive stiffness and weakness in the legs, starting in childhood. Early diagnosis helps manage symptoms and improve mobility.
Gene Panel Workflow
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