Neuropediatrics

None

Product	Type of test	Genes
Stickler syndrome, type II	Gene NGS	COL11A1
Succinate dehydrogenase complex	Gene NGS	SDHA
Succinic semialdehyde dehydrogenase...	Gene NGS	ALDH5A1
Succinyl CoA:3-oxoacid CoA transferase...	Gene NGS	OXCT1
Surfactant metabolism dysfunction, pulmonary	Gene NGS	SFTPB
Surfactant metabolism dysfunction,...	Gene NGS	SFTPC
Surfactant metabolism dysfunction,...	Gene NGS	SFTPC
Surfactant metabolism dysfunction,...	Gene NGS	ABCA3
Syndromic and non-syndromic paraparesis....	Targeted Exome	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)
Targeted exome (Panel by exome 100 to 500...	Targeted Exome
Targeted exome (Panel by exome up to 100...	Targeted Exome
Tay-Sachs disease	Gene NGS	HEXA
Tay-Sachs disease, AB variant	Gene NGS	GM2A
Testing 3 point mutations	Sanger	False
Thanatophoric dysplasia, type II	Gene NGS	FGFR3
Thoracic aortic aneurysm IV	Gene NGS	MYH11

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