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NGS analysis - Anophtalmia, microphthalmia
Gene: ABCB6, ACTB, ALDH1A3, ATOH7, BCOR, B3GLCT, BMP4, BMP7, CC2D2A, CHD7, COL4A1, COX7B, CRYBA4, CYP1B1, FOXC1, FOXL2, FRAS1, FREM1, FREM2, GDF3, GDF6, GJA1, GJA8, GLI2, GRIP1, HCCS, HDAC6, HESX1, HMGB3, HMX1, KMT2D , MAB21L2, MFRP, MITF, NAA10, NHS, NDUFB11, OCRL, OTX2, PAX2, PAX6, PDE6D, PEX11B, PIGL, PITX2, PITX3, PORCN, PQBP1, PRSS56, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4, RPGRIP1L, SALL1, SALL2, SALL4, SEMA3E, SHH, SIX3, SIX6, SLC38A8, SMCHD1, SMO , SMOC1, SOX2, STRA6, TBC1D20, TENM3, TFAP2A, TMEM67, TMEM98 , TUBGCP4 , VAX1, VIP, VPS13B, VSX1, VSX2, YAP1, ZEB2
Neuralgic amyotrophy
Gene: SEPT9
Neuroacanthocytosis
Gene: VPS13A
Malignant hyperthermia, type 5
Gene: CACNA1S
Hypokalemic periodic paralysis, type 1
Gene: CACNA1S
Autoimmune lymphoproliferative syndrome with recurrent viral infections
Gene: CASP8
Autoimmune lymphoproliferative syndrome, type IIA
Gene: CASP10
Atopic dermatitis/Ichthyosis vulgaris
Gene: FLG
Achromatopsia, type 2
Gene: CNGA3
Achromatopsia, type 4
Gene: GNAT2
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