Panel de Hiperfenilalaninemia
DNAJC12, GCH1, PAH, PCBD1, PTS, QDPR
DNAJC12, GCH1, PAH, PCBD1, PTS, QDPR
AAAS, ABCA1, ABCC8, ABCD1*, ABCD3, ABCD4, ABCG5, ABCG8, ACAD9, ACADL, ACADM, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ACY1, ADA, ADAMTSL2*#, ADCK3, ADCY10, ADCY3, ADK, ADSL, AGA, AGK*, AGL, AGPS, AGXT, AHCY, AIRE, ALAD, ALAS2, ALDH5A1, ALDH7A1,...
CBS, MTHFR, MTR, MTRR
ACADM, ACADS, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CA5A*, CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUD1*, GLUL, HADHA, HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC, MUT, NAGS, NBAS,...
HAMP, HFE, HFE2, SLC40A1, TFR2
ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ALDH5A1, CPT1A, CPT2, ECHS1, ETFA, ETFB, ETFDH, GLUD1*, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD17B10, LPIN1, PPARG, SLC22A5, SLC25A20, TAZ
AGL, ALDOA, ENO3, EPM2A, FBP1, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, NHLRC1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PRKAG3, PYGL, PYGM, RBCK1, SLC2A2, SLC37A4
SLC3A1, SLC7A9
GAMT, GATM, SLC6A8*
ALDOB, GALE, GALK1, GALT, LCT, SI, SLC2A1, SLC2A2, SLC5A1
AGPAT2, AKT2, BSCL2, CAV1, CIDEC*, LIPE, LMNA, PLIN1, PPARG, PTRF, TBC1D4, ZMPSTE24
ALG1*, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8#, ALG9, ATP6V0A2, B3GLCT, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, FUT8, GMPPA, GNE, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1,...
ABCC8, ABCD1*, ABCD3, ABCD4, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ACY1, ADA, ADAMTSL2*#, ADAR, ADCK3, ADK, ADSL, AGA, AGK*, AGL, AGPAT2, AGPS, AGXT, AHCY, AKT2, ALAD, ALAS2, ALDH5A1, ALDH7A1, ALDOA, ALDOB,...
ADCK3, ANO10, APTX, COQ2, COQ4, COQ5, COQ6, COQ7, COQ9, ETFA, ETFB, ETFDH, PDSS1#, PDSS2, SLC25A26
ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1
