Hereditary Spastic Paraplegia: Comprehensive

Test Information
Test Name Hereditary Spastic Paraplegia: Comprehensive
Lab (Location) The Hospital for Sick Children
Category Neurogenetics
Subcategory Hereditary Spastic Paraplegia
Gene/Platform/Region List ABCD1, ADAR, ALDH18A1, ALS2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ATL1, ATP13A2, B4GALNT1, BSCL2, C19orf12, CAPN1, CPT1C, CYP2U1, CYP7B1, DDHD1, DDHD2, ERLIN1, ERLIN2, FA2H, FAR1, FARS2, GBA2, HACE1, HPDL, HSPD1, IBA57, IFIH1, KIDINS220, KIF1A, KIF1C, KIF5A, L1CAM, MAG, MTRFR, NIPA1, NT5C2, PCYT2, PLP1, PNPLA6, POLG, POLR3A, POLR3B, REEP1, REEP2, RNF170, RTN2, SACS, SELENOI, SETX, SLC16A2, SPART, SPAST, SPG11, SPG21, SPG7, TECPR2, TFG, TUBB4A, UBAP1, UCHL1, VPS13D, WASHC5, ZFYVE26
Test type Gene Panel
Samples Accepted Blood, DNA
Indications Diagnosis Diagnosis, Prenatal
Test Methodology CNV, Sequencing
Methodology Notes Exome + targeted microarray
Diseases/Conditions Hereditary Spastic Paraplegia