Prodotti

Pan81-IT

Acidemia metilmalonica

Genes:

ABCD4, ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1

Pan178-IT

Acidosi tubulare renale

Genes:

AGL, ALDOB, ATP6B1, ATP6V0A4, ATP6V1B1, CA2, CAD, CLCN5, CLDN16, CPT1A, EHHADH, EPG5, FBXL4, G6PC, GSS, HPD, JAG1, KYNU, LCT, NADK2, NOTCH2, OCRL, PC, RMND1, RRM2B, SLC26A6, SLC2A2, SLC4A1, SLC4A4, SUCLA2, TCIRG1, UQCC2, VPS33B, WDR72, WNK4, XDH

Pan3-IT

Albinismo e sindrome di Hermansky-Pudlak

Genes:

AP3B1, BLOC1S3, BLOC1S5, BLOC1S6, C10ORF11, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, MC1R, MLPH, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1.

Pan66-IT

Amaurosi congenita di Leber

Genes:

AIPL1, CABP4, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13 , LCA5, LRAT, NMNAT1, OTX2, PRPH2, RD3, RDH12, RIMS2, RPE65, RPGRIP1, SPATA7, TULP1

Pan162-IT

Anemia congenita

Genes:

ABCB7, ABCD4, ADAMTS13, ALAS2, AMN, ANK1, ATM, ATR, ATRX, BLM, BRCA1, BRCA2, BRIP1, C15ORF41, CDAN1, COX4I2, CUBN, DHFR, EPB42, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FTCD, G6PD, GATA1, GIF, GLRX5, GPI, GSS, HBA1, HBA2, HBB, HFE, LMBRD1, KLF1, LPIN2, MMACHC, MMADHC, MTR, MTRR, NBN, PALB2, PC, PDHA1, PDHX, PIEZO1, PKLR, PUS1, RAD51C, RPL11, RPL15, RPL35A, RPL15, RPL26, RPL27, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS28, RPS29, RPS7, SBDS, SEC23B, SLC19A2, SLC25A38, SLC4A1, SLX4, SPTA1, SPTB, TCN2, THBD, TMPRSS6, TPI1, TRNT1, TSR2, XRCC2, YARS2

Pan39-IT

Anemia di Diamond-Blackfan

Genes:

GATA1, RPL11, RPL35A, RPL5, RPL15, RPL26, RPL27, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2

Pan50-IT

Anemia di Fanconi

Genes:

BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MAD2L2, PALB2, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2

Pan263-IT

Anemia emolitica

Genes:

ABCB6, ABCG8, ADAMTS13, AK1, ANK1, ALDOA, ATP11C, BPGM, C3, CASP10, CD46, CD59, CFB, CFHR5, CFI, CPOX, DGKE, FAS, FASLG, EPB41, EPB42, FOXP3, G6PD, GCLC, GPI, GSS, GSR, HK1, IL2RB, KCNN4, KRAS, LCAT, LRBA, NRAS, NT5C3A, PFKM, PGK1, RHAG, RHCE, SLC2A1, SLC4A1, SPTA1, SPTB, THBD, TPI1, UROS

Pan78-IT

Anemia megaloblastica con o senza omocistinuria – difetti del metabolismo intracellulare della cobalamina

Genes:

AMN, CUBN, GIF, SLC19A2, DHFR, MTR, MMACHC, MMADHC, MTRR, LMBRD1, ABCD4

Pan8-IT

Aneurisma aortico familiare toracico

Genes:

ACTA2, COL3A1, FBN1, FBN2, FOXE3, LOX, LTBP3, MFAP5, MYH11, MYLK, PRKG1, SLC2A10, SMAD3, SMAD4, TGFBR1, TGFBR2, TGFB2, THSD4

Pan7-IT

Anoftalmia/microftalmia, isolata/sindromica

Genes:

ABCB6, ALDH1A3, ALX1, BCOR, BMP4, CAPN15, COX14, COA5, CHD7, COX6B1, CRYAA, CRYBA4, CRYBB2, CRYGD, DPYD, DYRK1A, ERCC6, ESCO2, EYA1, FASTKD2, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GDF3, GDF6, GJA1, GLI3, HCCS, HDAC6, HESX1, HMGB3, HMX1, IKBKG, ISPD, KERA, KIF11, MAB21L2, MAF, MBTPS2, MFRP, MYRF, NAA10, NDP, NHS, OCLN, OTX2, PAX2, PAX6, PHGDH, PITX3, POMT1, PORCN, PQBP1, PRR12, PRSS56, PUF60, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4, RIPK4, SALL2, SALL4, SHH, SIX3, SIX6, SLC36A2, SLC6A19, SLC6A20, SMAD4, SMCHD1, SMOC1, SOX2, STRA6, TBC1D20, TBX1, TENM3, TFAP2A, TGFB2, VAX1, VCAN, VSX1, VSX2, WDR73, ZBTB20, ZIC2

Pan9-IT

Aritmie ereditarie

Genes:

AKAP9, ANK2, CACNA1C, CACNB2, CASQ2, CAP2, CAV3, CTNNA3, DSC2, DSG2, DSP, GPD1L, JUP, KCNA5, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KLHL24, NPPA, PKP2, PLN, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SHOX2, SNTA1, TGFB3, TMEM43

Pan11-IT

Artrogriposi distale e altre contratture degli arti

Genes:

ADCY6, BEST3, ECEL1, ERGIC1, FBN1, FBN2, MYBPC1, NALCN, MYH3, MYH8, PIEZO2, TNNI2, TNNT3, TPM2, VIPAS39

Pan12-IT

Ashkenazi – patologie frequenti

Genes:

GBA, CFTR, HEXA, IKBKAP, ASPA, G6PC, ABCC8, MCOLN1, BCKDHB, FANCC, DLD, SMPD1, CLRN1, PCDH15, BLM, NEB, BRCA1, BRCA2

Pan25-IT

Atassia cerebellare

Genes:

ADCK3, APTX, COQ2, COQ9, DNMT1, FXN, KMT2B, PDSS1, PDSS2, POLG, PRDX3, RNU12, SACS, SETX, SYNE1, TTPA, VLDLR, VPS41

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