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NRAS - most frequent pat. variants
Gén: NRAS: codons 12,13,59,61,117, 146
EGFR - most frequent pat. Variants
Gén: EGFR: exons 18,19, 20, 21
KRAS - most frequent pat. variants
Gén: KRAS: codons 12,13,59,61,117, 146
Postnatal karyotyping of peripheral blood
Gén: Karyotype (G-banded)
Prenatal karyotyping of amniotic fluid
Gén: Karyotype (G-banded)
BRAF (V600E)
Gén: BRAF: p.V600E
Waardenburg syndrome
Gén: EDN3, EDNRB, KIT, MITF, PAX3, SNAI2, SOX10, TYR
Xeroderma pigmentosum
Gén: DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
Usher syndrome
Gén: ABHD12, ADGRV1 (GPR98), CDH23, CEP250, CIB2, CLRN1, ESPN, GIPC3, HARS, MYO7A, PCDH15, PDZD7, PRPS1, USH1C, USH1G, USH2A, WHRN (DFNB31)
Vitreoretinopathy
Gén: ATOH7, BEST1, CAPN5, COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL18A1, CTNNB1, FZD4, KCNJ13, KIF11, LRP5, NDP, NR2E3, P3H2 (LEPREL1), RCBTB1, RS1, TSPAN12, VCAN, ZNF408
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