NeoPainel para Paraplegias Espásticas e Esclerose Lateral Amiotrófica

Catalog information

Technical data of NeoPainel para Paraplegias Espásticas e Esclerose Lateral Amiotrófica

Investigação genetics de Paraplegias Espásticas e Esclerose Lateral Amiotrófica por NeoPainel, com análise direcionada baseada em exoma.

Applications

Rare and hereditary diseases

Accepted samples

peripheral blood (preferred), Mouth swab, DNA extraído

Estimated deadline

Tradicional · 30 calendar days, contados após sample acceptance.

Rápido · 15 calendar days, contados após sample acceptance.

Base method

Exome

Analytical scope

Analysis dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Genes analyzed

155 genes registered in the structured scope of the test.

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ABCD1, ABHD12, ACO2, ACOX1, ADAR, AFG3L2, AIMP1, ALDH18A1, ALS2, AMPD2, ANG, ANXA11, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARHGEF28, ARL6IP1, ATL1, ATL3, ATP13A2, ATRX, B4GALNT1, BICD2, BSCL2, C19ORF12, CAPN1, CCT5, CFAP410, CHCHD10, CHGB, CHMP2B, CRYM, CYP27A1, CYP2U1, CYP7B1, DAO, DARS1, DCTN1, DDHD1, DDHD2, DSTYK, DYNC1H1, ENTPD1, ERBB4, ERLIN1, ERLIN2, EXOSC3, FA2H, FARS2, FIG4, FUS, GAD1, GARS1, GBA2, GCH1, GJC2, GM2A, GRN, HACE1, HEXA, HEXB, HNRNPA1, HNRNPA2B1, HSPB1, HSPB8, HSPD1, IBA57, IFIH1, IGHMBP2, ITPR1, KCNA2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, L1CAM, LUM, LYST, MAG, MAPT, MARS1, MARS2, MATR3, MFN2, MTPAP, MTRFR, NARS2, NEFH, NEK1, NIPA1, NT5C2, OPA3, OPTN, PARK7, PFN1, PGAP1, PLA2G6, PLP1, PNPLA6, POLR3A, PRPH, PSEN1, RAB3GAP2, REEP1, REEP2, RNF170, RTN2, SACS, SARS2, SERAC1, SETX, SIGMAR1, SLC16A2, SLC25A15, SLC2A1, SLC33A1, SOD1, SPART, SPAST, SPG11, SPG21, SPG7, SPTAN1, SQSTM1, TAF15, TARDBP, TBK1, TECPR2, TFG, TP73, TREM2, TRPM7, TRPV4, TUBA4A, TUBB4A, UBAP1, UBQLN2, UCHL1, UNC13A, UNC80, USP8, VAMP1, VAPB, VCP, VEGFA, VPS37A, WASHC5, WDR45B, ZEB2, ZFYVE26, ZFYVE27

Medical request

Required