Categorias Webs

None

Product	Type of test	Genes
Spastic paraplegia 39	Gene NGS	PNPLA6
Spastic paraplegia 3A	Gene NGS	SPG3A
Spastic paraplegia 4	Gene NGS	SPG4
Spastic paraplegia 6	Gene NGS	NIPA1
Spastic Paraplegia Autosomal Dominant	Detección de deleciones/duplicaciones	SPAST
Spastic paraplegia familial	Targeted Exome	SPG3A (ATL1), SPG17 (BSCL2), SPG13 (HSPD1), SPG8 (KIAA0196), SPG10 (KIF5A), SPG6 (NIPA1), SPG31 (REEP1), SPG42 (SLC33A1), SPG4 (SPAST), SPG33 (ZFYVE27)
Spastic paraplegia, autosomal dominant	Gene NGS	SPAST
Spastic paraplegia, autosomal dominant	Targeted Exome	ATL1, SPAST, NIPA1, KIAA0196, KIF5A, HSPD1, RTN2, BSCL2, REEP1, ZFYVE27, SLC33A1
Spastic paraplegia, autosomal recessive	Targeted Exome	ALS2, SPG48 (AP5Z1), SPG5A (CYP7B1), SPG35 (FA2H), SPG44 (GJC2), SPG30 (KIF1A), SPG39 (PNPLA6), SPG7 (PGN), SPG11 (KIAA1840), SPG20 (TAHCCP1), SPG21 (ACP33), SPG15 (ZFYVE26)
Speech-language disorder	Targeted Exome	FOXP2, DCDC2, KIAA0319, MRPL19, CNTNAP2, DYX1C1, GRIN2A, ATP2C2, CMIP, GCFC2, ACOT13, GPLD1, FAM65B, DRD2, GNPTAB, GNPTG, NAGPA, AP4E1
Sperm DNA fragmentation	Detección de deleciones/duplicaciones
Spherocytosis, type 1	Gene NGS	ANK1
Spherocytosis, type 2	Gene NGS	SPTB
Spherocytosis, type 3	Gene NGS	SPTA1
Spherocytosis, type 4	Gene NGS	SLC4A1
Spherocytosis, type 5	Gene NGS	EPB42

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