Neuropediatrics

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Product	Type of test	Genes
Rhabdomyolysis	Targeted Exome	Nucleares: PYGM, PFKM, ALDOA, ENO3, PHKB, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKG2, ACADVL, CPT2, ETFA, ETFB, ETFDH, RYR1, ANO5, DMD, DYSF, FKTN, FKRP, DGUOK, ISCU, POLG, LPIN1, TSEN54 Mitocondriales: MTCO1, MTCO2, MTCO3, MTCYB
Rhabdomyolysis	Gene NGS	ISCU
Rhizomelic chondrodysplasia punctata, type 1	Gene NGS	PEX7
Ritscher-Schinzel syndrome 1	Gene NGS	KIAA0196 (SPG8)
Robinow syndrome	NGS Panel	ROR2, TWIST1, WNT5A
Robinow syndrome	Gene NGS	ROR2
Robinow syndrome	Gene NGS	DVL1, WNT5A
Robinow syndrome, autosomal dominant 1	Gene NGS	WNT5A
Rubinstein-Taybi syndrome	Gene NGS	EP300
Sandhoff disease	Gene NGS	HEXB
Sanjad-Sakati syndrome	Gene NGS	TBCE
Schinzel-Giedion syndrome	Gene NGS	SETBP 1
Schizophrenia	Gene NGS	SHANK3
Sd. Epilépticos con convulsiones febriles...	Targeted Exome	SCN1A, SCN1B, PCDH19
Seckel syndrome	Targeted Exome	ATR, RBBP8, CENPJ, CEP152, CEP63, ATRIP
Seckel syndrome	Gene NGS	ATRIP

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