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KRAS - most frequent pat. variants
Gene: KRAS: codons 12,13,59,61,117, 146
NRAS - most frequent pat. variants
Gene: NRAS: codons 12,13,59,61,117, 146
BRAF (V600E)
Gene: BRAF: p.V600E
EGFR - most frequent pat. Variants
Gene: EGFR: exons 18,19, 20, 21
Postnatal karyotyping of peripheral blood
Gene: Karyotype (G-banded)
Prenatal karyotyping of amniotic fluid
Gene: Karyotype (G-banded)
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
Waardenburg syndrome
Gene: EDN3, EDNRB, KIT, MITF, PAX3, SNAI2, SOX10, TYR
Xeroderma pigmentosum
Gene: DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
Syndromic deafness, AR, XL
Gene: ABHD12, ADGRV1, AIFM1, ALMS1, ATP6V1B1, BCAP31, BCS1L, BSND, BTD, CACNA1D, CATSPER2, CD151, CDH23, CEP250, CIB2, CISD2, CLPP, CLRN1, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, DCAF17, DLX5, EDN3, EDNRB, ESPN, FGF3, FOXI1, GFER, GPSM2, GRHL2, HARS, HARS2, HOXA2, HOXB1, HSD17B4, CHSY1, IGF1, KCNE1, KCNJ10, KCNQ1, LARS2, LRP2, MAN2B1, MANBA, MGP, MITF, MYO7A, NARS2, NDP, PAX3, PCDH15, PDZD7, PEX1, PEX26, PEX6, PNPT1, POLR1C, POLR1D, PRPS1, RMND1, RPS6KA3, SLC19A2, SLC26A4, SLC29A3, SLC33A1, SLC52A2, SLC52A3, SLITRK6, SNAI2, TBC1D24, TIMM8A, TNFRSF11B, TWNK, TYR, USH1C, USH1G, USH2A, WFS1, WHRN, XYLT2
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