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Spastic Paraplegia, NGS

Order Code
17243128
CPT
81448
Test Details
Synonyms

Neuropathy panel

TAT

21 days

Methodology

Next Generation Sequencing

Remarks

Genelist (136): ABCD1, ACO2, ADAR, AFG3L2, ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARL6IP1, ARSI, ATAD3A, ATL1, ATL3, ATP13A2, ATP2B4, ATRX, B4GALNT1, BICD2, BSCL2, C19orf12, CACNA1G, CAPN1, CCT5, COASY, CPT1C, CTNNB1, CYP27A1, CYP2U1, CYP7B1, DARS1, DDHD1, DDHD2, DSTYK, ENTPD1, ERLIN1, ERLIN2, EXOSC3, FA2H, FARS2, FLRT1, FXN, GALC, GAD1, GBA2, GBE1, GCH1, GJC2, GPT2, HACE1, HSPD1, IBA57, IFIH1, IRF2BPL, ITPR1, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, L1CAM, L2HGDH, LYST, MAG, MARS1, MARS2, MFN2, MTRFR, NARS2, NIPA1, NKX6-2, NT5C2, PGAP1, PLA2G6, PLP1, PNPLA6, POLR3A, RAB3GAP2, RARS1, REEP1, REEP2, RNF170, RTN2, SACS, SARS2, SERAC1, SETX, SLC1A4, SLC16A2, SLC25A15, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG7, SPR, SPTAN1, TECPR2, TFG, TH, TRPV4, TUBB4A, UBAP1, UCHL1, UNC80, USP8, VAMP1, VCP, VPS37A, WASHC5, WDR48, ZFR, ZFYVE26, ZFYVE27, PQBP1, TUBB3, WDR45, TREX1, SAMHD1, MECP2, KLC2, SLC2A1, RNASEH2B, OPA3, CDK16, PCDH12, MTPAP, WDR45B, PSEN1, SLC25A46, AIMP1

Performing Location

Accredited NRL Laboratory

Testing Frequency

Once a week

Test Overview

Identify genetic causes of hereditary spastic paraplegia; targeted therapy and genetic counseling.

Specimen Type

Peripheral Blood

Volume

5-7 mL whole blood OR DNA ≥ 100 µL

Specimen Container

Lavender-top (EDTA) tube

Patient Preparation

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Collection

This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.

Specimen Stability
Temperature Period
Refrigerated 7 days
Order Code
17243128
CPT
81448
Test Details
Synonyms

Neuropathy panel

TAT

21 days

Methodology

Next Generation Sequencing

Remarks

Genelist (136): ABCD1, ACO2, ADAR, AFG3L2, ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARL6IP1, ARSI, ATAD3A, ATL1, ATL3, ATP13A2, ATP2B4, ATRX, B4GALNT1, BICD2, BSCL2, C19orf12, CACNA1G, CAPN1, CCT5, COASY, CPT1C, CTNNB1, CYP27A1, CYP2U1, CYP7B1, DARS1, DDHD1, DDHD2, DSTYK, ENTPD1, ERLIN1, ERLIN2, EXOSC3, FA2H, FARS2, FLRT1, FXN, GALC, GAD1, GBA2, GBE1, GCH1, GJC2, GPT2, HACE1, HSPD1, IBA57, IFIH1, IRF2BPL, ITPR1, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, L1CAM, L2HGDH, LYST, MAG, MARS1, MARS2, MFN2, MTRFR, NARS2, NIPA1, NKX6-2, NT5C2, PGAP1, PLA2G6, PLP1, PNPLA6, POLR3A, RAB3GAP2, RARS1, REEP1, REEP2, RNF170, RTN2, SACS, SARS2, SERAC1, SETX, SLC1A4, SLC16A2, SLC25A15, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG7, SPR, SPTAN1, TECPR2, TFG, TH, TRPV4, TUBB4A, UBAP1, UCHL1, UNC80, USP8, VAMP1, VCP, VPS37A, WASHC5, WDR48, ZFR, ZFYVE26, ZFYVE27, PQBP1, TUBB3, WDR45, TREX1, SAMHD1, MECP2, KLC2, SLC2A1, RNASEH2B, OPA3, CDK16, PCDH12, MTPAP, WDR45B, PSEN1, SLC25A46, AIMP1

Performing Location

Accredited NRL Laboratory

Testing Frequency

Once a week

Test Overview

Identify genetic causes of hereditary spastic paraplegia; targeted therapy and genetic counseling.

Specimen Type

Peripheral Blood

Volume

5-7 mL whole blood OR DNA ≥ 100 µL

Specimen Container

Lavender-top (EDTA) tube

Patient Preparation

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Collection

This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.

Specimen Stability
Temperature Period
Refrigerated 7 days