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Wiedemann-Steiner syndrome
Gene: KMT2A
NGS analysis - Paraganglioma and pheochromocytoma
Gene: APC, CDC73, CDKN1B, DICER1, EGLN1, ESPAS1, FH, GDNF, KIF1B, MAX, MEN1, NF1, PRKAR1A, PTEN, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53, VHL
TOMORROW test - AVAILABLE ONLY FOR SELF-PAYERS
Gene: Chromosomes 13,18,21,X,Y
NGS analysis - Cancer panel
Gene: APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, EPCAM, FH, FLCN, GREM1, CHEK2, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TMEM127, TP53, TSC1, TSC2, VHL
Palmoplantar keratoderma, striata, type III
Gene: KRT1
Ollier disease
Gene: IDH1
Ollier disease
Gene: IDH2
NGS analysis - Xeroderma pigmentosum
Gene: DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
NGS analysis - Vitreoretinopathy
Gene: ATOH7, BEST1, CAPN5, COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL18A1, CTNNB1, FZD4, KCNJ13, KIF11, LRP5, NDP, NR2E3, P3H2 (LEPREL1), RCBTB1, RS1, TSPAN12, VCAN, ZNF408
NGS analysis - Congenital anomalies of the kidneys and uropoietic tract
Gene: ACE, ACTA2, ACTG2, AGT, AGTR1, ANOS1, BNC2, BSND, CCNQ, CHD7, CHRM3, CHRNA3, COX14, CTU2, DHCR7, DSTYK, EYA1, FANCB, FGF20, FOXC2, FRAS1, FREM1, FREM2, GATA3, GLI3, GPC3, GRIP1, HNF1B, HOXA13, HPSE2, ITGA8, JAG1, KDM6A, KIF14, KMT2D, KYNU, LRIG2, LRP4, MUC1, MYOCD, NEK8, NIPBL, NOTCH2, NPHP3, NRIP1, OCRL, PAX2, PBX1, PUF60, REN, ROBO2, ROR2, RPGRIP1L, RRM2B, SALL1, SIX1, SIX5, SOX17, STRA6, TBX18, TFAP2A, TMEM237, TNXB, UMOD, VIPAS39, VPS33B, WNT4, WNT5A, WT1, ZIC3
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