Hereditary Spastic Paraplegia: Comprehensive

Test Information

Titre
Hereditary Spastic Paraplegia: Comprehensive
Catégorie
Neurogenetics
Test Name (CMS Title)
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
Samples Accepted
Blood, DNA
Indications
Diagnostics
Test Methodology
Sequencing
Methodology Notes
Exome + targeted microarray
Disease/Condition
Hereditary Spastic Paraplegia

Dernière Mise à Jour: 09 décembre 2025