Neuropediatría

Neuropediatría

None

Producto Tipo de test Genes
Gen NGS FLNA
Gen NGS
Gen NGS GLI3 
Exoma Dirigido PRSS1, PRSS2, SPINK1, CTRC, CFTR, CASR, CLDN2, CPA1, SBDS, CEL, UBR1
Gen NGS POLG2 + C10orf2
Panel NGS KRT6A, KRT6B, KRT6C, KRT16, KRT17.

Detección de deleciones/duplicaciones

SDHB, SDHC, SDHD
Gen NGS CACNA1S 
Exoma Dirigido SPG3A (ATL1), SPG17 (BSCL2), SPG13 (HSPD1), SPG8 (KIAA0196), SPG10 (KIF5A), SPG6 (NIPA1), SPG31 (REEP1), SPG42 (SLC33A1), SPG4 (SPAST), SPG33 (ZFYVE27)
Exoma Dirigido ATL1, SPAST, NIPA1, KIAA0196, KIF5A, HSPD1, RTN2, BSCL2, REEP1, ZFYVE27, SLC33A1

Detección de deleciones/duplicaciones

SPAST
Exoma Dirigido ALS2, SPG48 (AP5Z1), SPG3A(ATL1), SPG17 (BSCL2), CCT5, SPG5A (CYP7B1), SPG35 (FA2H), SPG44 (GJC2), SPG13 (HSPD1), KDM5C, SPG8 (KIAA0196), SPG30 (KIF1A), SPG10 (KIF5A), SPG1 (L1CAM), SPG39 (PNPLA6), SPG31 (REEP1), SLC16A2, SPG6 (NIPA1), SPG2 (PLP1), SPG42 (SLC33A1), SPG4 (SPAST), SPG7 (PGN), SPG11 (KIAA1840), SPG20 (TAHCCP1), SPG21 (ACP33), SPG15 (ZFYVE26), SPG33 (ZFYVE27)
Gen NGS REEP1
Gen NGS KIF5A 
Gen NGS SPG3A 
Gen NGS SPG4