gene mutation testing; gene mutation analysis

Specific

AARS2 gene mutation ABCA3 gene mutation ABCB1 gene mutation ABCB4 gene mutation; P glycoprotein 3 gene mutation ABCC8 gene mutation; sulfonylurea receptor gene mutation ABCD1 gene mutation ACAD8 gene mutation ACADS gene mutation; short-chain acyl CoA dehydrogenase gene mutation ACADVL gene mutation ACAT1 gene mutation ACSF3 gene mutation ACSL4 gene mutation; long-chain fatty acid CoA ligase 4 gene mutation ACTA1 gene mutation; alpha-actin 1 gene mutation ACVRL1 gene mutation; S/T kinase receptor R3 gene mutation ACVRL1+ENG gene mutation ADNFLE gene mutation AGA gene mutation AGL gene mutation AGXT gene mutation; serine pyruvate aminotransferase gene mutation AH receptor-interacting protein (AIP) gene mutation AHCY gene mutation AIRE gene mutation AKT1 gene mutation ALAS2 gene mutation ALDH3A2 gene mutation ALDOB gene mutation; aldolase B gene mutation ALOX3+ALOX12B gene mutations ALPL gene mutation ALS2 gene mutation ALS4 gene mutation; sentaxin gene mutation AMPD1 gene mutation ANG gene mutation Angelman syndrome (AS) + Prader Willi syndrome (PWS) gene mutations angiotensin-converting enzyme (ACE) gene mutations APC gene mutation APOB (apolipoprotein B) gene mutation APP gene mutation APTX gene mutation; aprataxin gene mutation AR gene mutation; androgen receptor gene mutation ARSA gene mutation ARX gene mutation ASPA gene mutation; aminocyclase 2 gene mutation; aspartoacyclase gene mutation ASS1 gene mutation ATM gene mutation ATP1A2 gene mutation ATP5A1 gene mutation ATP7A gene mutation; copper transporting ATPase 1 gene mutation ATP7B gene mutation; copper transporting ATPase 2 gene mutation ATRX gene mutation AXIN2 gene mutation BBS1 gene mutation; Bardet-Biedl syndrome 1 gene mutation BBS10 gene mutation BBS2 gene mutation; Bardet-Biedl syndrome 2 gene mutation BCHE gene mutation BCKDHB gene mutation BCR-ABL1 kinase domain mutations BCS1L gene mutation; mitochondrial chaperone BCS1 gene mutation beta globin (HBB) gene mutation beta-catenin gene mutation BHD gene mutation; FLCN gene mutation; folliculin gene mutation BLM gene mutation analysis BMPR1A gene mutation BRAF gene mutation BRAF V600 mutation (THxID BRAF) branchio-oto-renal syndrome (BOR syndrome) gene mutations BRCA gene mutation (BRACAnalysis CDx) BSCL2 gene mutation BTD gene mutation; biotinidase gene mutation BTK gene mutation C10orf2 gene mutation; twinkle gene mutation C12orf65 gene mutation C5-cytosine DNA methyltransferase-3A (DNMT3A) gene mutation CACNA1A gene mutation; voltage-dependent Ca+2 channel alpha 1A gene mutation CACNA1S gene mutation CACNA1S+SCN4A gene mutations CACT gene mutation CALR (calreticulin) gene exon 9 mutation calreticulin (CALR) gene mutation Cancer related large scale gene mutation analysis CAPN3 gene mutation; calpain 3 catalytic subunit gene mutation CASR gene mutation CATCH22 syndrome gene mutation; CATCH22 syndrome gene mutation CAV3 gene mutation; caveolin 3 gene mutation CBS gene mutation CCND1 gene mutation CCR2 gene p.Val64Ile CCR5 gene mutation CDH1 gene mutation CDHR1 gene mutation CDKL5 gene mutation; serine/threonine protein kinase 9 gene mutation CDKN1B (p27KIP1) gene mutation CDKN2A gene deletion+duplication+mutation analysis CDKN2A+CDK4 gene mutations CEBPA gene mutation CERKL gene mutation CES1 gene c.428G>A CFH gene mutation CFTR gene mutation CFTR+PRSS1+SPINK1 gene mutations CHD7 gene mutation; chromodomain helicase DNA-binding protein 7 gene mutation CHEK2 gene mutation CHIC2 gene mutation; cysteine-rich hydrophoblic domain 2 gene mutation CIAS1 gene mutation; cold autoinflammatory syndrome 1 gene mutation CILD2 gene mutation; dynein assembly factor 3, axonemal gene mutation; DNAAF3 gene mutation CLCN1 gene mutation; chloride channel 1 gene mutation CLCN5 gene mutation; chloride channel 5 gene mutation CLL gene mutation CLN5 gene mutation CLN8 gene mutation CLRN1 gene c.144T>G CMT axonal gene mutation; CMT2 gene mutation CMT demyelinating gene mutation; CMT1 gene mutation CMTX2 gene mutation CMV gene mutation CNBP gene mutation; ZNF9 gene mutation CNGB3 gene mutation CNR1 gene mutation; cannabinoid receptor 1 gene mutation coagulation factor XIII V34L mutation COCH gene mutation COL10A1 gene mutation; collagen 10 alpha-1 gene mutation COL1A1+COL1A2 gene mutations COL2A1 gene mutation COL2A1+COL11A1 gene mutations COL3A1 gene mutation; collagen 3 alpha-1 gene mutation COL4A5 gene mutation; collagen 4 alpha-5 gene mutation COL5A1 gene mutation; collagen 5 alpha-1 gene mutation COL5A1+COL5A2 gene mutation; collagen 5 alpha-1 + collagen 5 alpha-2 gene mutation COMT gene mutation connexin-31/gap junction protein beta-3 (GJB3) gene mutation COX10 gene mutation; protoheme IX farnesyltransferase, mitochondrial gene mutation CPEO syndrome gene mutation CPS1 gene mutation; carbamoyl phosphate synthase NH3 gene mutation CPT1A gene mutation CPT2 gene mutation CPVT1 gene mutation CSTB gene mutation; cystatin B gene mutation CTNNB1 gene mutation CTNS gene mutation CTSK gene mutation CYBA gene mutation; cytochrome B588-alpha gene mutation CYBB gene mutation CYP11B1 gene mutation CYP17A1 gene mutation CYP1A2 gene mutation CYP21A2 gene mutation; steroid 21 hydroxylase gene mutation CYP2C8 gene mutation CYP2C9 gene mutation CYP2D6 gene mutation CYP2E1 gene mutation CYP3A4 gene mutation CYP3A5 gene mutation cytochrome P450 2B6 (CYP2B6) gene mutation cytomegalovirus UL54 gene mutation cytomegalovirus UL54+UL97 gene mutations cytomegalovirus UL97 gene mutation DCX gene mutation; doublecortin gene mutation DFNB31 gene mutation DHCR7 gene mutation; 7-dehydrocholesterol reductase gene mutation DLD gene mutation DMD gene deletion & duplication DMD gene mutation; dystrophin gene mutation DMPK gene mutation DNAI1+DNAH5 gene mutations DPYD gene mutation DPYD2A gene mutation DYSF gene mutation; dysferlin gene mutation DYT1 gene deletion; torsin A gene deletion DYT1 gene mutation; torsin A gene mutation ECGF1 gene mutation; thymidine phosphorylase gene mutation EGR2 gene mutation; KROX-20 gene mutation ELA2 gene mutation ELN gene mutation; elastin gene mutation endoglin (ENG) gene mutation EPCAM gene exons 8 & 9 deletion & duplication epidermal growth factor receptor (EGFR) gene mutation EPM2A gene mutation ERBB2 gene mutation EXT1 gene mutation; exostosin 1 gene mutation EYA1 gene mutation; eyes absent homolog 1 mutation F11 gene mutation; factor XI gene mutation F12 gene mutation F2 gene mutation F7 gene mutation F8 gene mutation; hemophilia A genotyping factor IX gene mutation factor V (F5) gene mutation FAH gene mutation; fumarylacetoacetase gene mutation FANCC gene mutation FANCC gene mutation analysis FARS2 gene mutation FBN1 gene mutation; fibrillin-1 gene mutation FBN2 gene mutation FECH gene mutation FGB gene mutation FGD1 gene mutation; faciogenital dysplasia gene mutation FGF23 gene mutation; fibroblast growth factor (FGF)-23 gene mutation FGFR1 gene mutation FGFR2 gene mutation; fibroblast growth factor receptor (FGFR)-2 gene mutation FGFR2+FGFR3 gene mutations FGFR3 gene mutation; fibroblast growth factor receptor (FGFR)-3 gene mutation FH gene mutation; fumarase gene mutation FIG4 gene mutation FKBP10 gene mutation FKRP gene mutation; fukutin-related gene mutation FKTN gene mutation; fukutin gene mutation FLNA gene mutation; filamin-1 gene mutation FLT3 gene mutation FMR1 gene mutation FMR1 gene premutation/premutation+full mutation FRDA gene mutation; frataxin gene mutation FSHB gene mutation FSHD gene mutation FSHR gene mutation FUS gene mutation G6PC gene mutation; glucose-6-phosphatase gene mutation G6PD gene mutation GAA gene mutation; lysosomal alpha glucosidase gene mutation GALC gene mutation GALT gene mutation GATA1 gene exon 2 mutation Gaucher 1 gene mutation Gaucher 2 gene mutation Gaucher 3 gene mutation GBA/GBA1 gene mutation GCDH gene mutation GCH1 gene mutation; GTP cyclohydrolase gene mutation GCK gene mutation; glucokinase gene mutation GDAP1 gene mutation GFAP gene mutation GFM1 gene mutation GJB1 gene mutation; connexin-32 gene mutation GJB2 (connexin-26) gene mutation GJB6 gene mutation; connexin-30 gene mutation GLA gene mutation; alpha-galactosidase A gene mutation GLRA1 gene mutation; glycine receptor alpha-1 gene mutation GNAS1 gene mutation; gsp proto-oncogene mutation GNE gene mutation GNMT gene mutation GPC3 gene mutation; glipican-3 gene mutation GPR143 gene mutation GPR98 gene mutation GRHPR gene mutation GRN gene mutation GYS2 gene mutation; glycogen synthase liver gene mutation HADHA gene mutation; long chain enoyl CoA hydratase gene mutation HADHB gene mutation HARS2 gene mutation HBA1 gene mutation; hemoglobin alpha-1 gene mutation HBA2 gene mutation; hemoglobin alpha-2 gene mutation Helicobacter pylori 23S rRNA clarithromycin resistance mutation Hepatitis B virus basal core promoter mutation Hepatitis C virus NS3 gene mutations Hepatitis C virus NS5 gene mutations HEXA gene mutation; beta-N-acetylhexosaminidase alpha gene mutation HEXB gene mutation HFE gene mutation; HFE genotyping HGD gene mutation HIV 1 RNA + hepatitis C virus RNA HIV 1 RNA + hepatitis C virus RNA + hepatitis B virus DNA HIV reverse transcriptase gene mutation HIV reverse transcriptase+protease gene mutations HIV reverse transcriptase+protease+integrase gene mutations HIV1 integrase gene mutation HIV1 proviral DNA gene mutation HIV1 RNA integrase gene mutations HIV1 RNA protease gene mutations HIV1 RNA reverse transcriptase gene mutations HNF1A gene mutation HNF1B gene mutation HNF4A gene mutation HNPCC gene mutations; mismatch repair mutations HP gene mutation HP gene mutation in tissue HPD gene mutation HPRT1 gene mutation; hypoxanthine phosphoribosyltransferase gene mutation HPS1 gene mutation; Hermansky-Pudlak syndrome 1 (HPS1) gene mutation HRAS gene mutation HSD17B4 gene mutation HTC2 gene mutation HTR2A gene mutation; serotonin-2A receptor gene mutation HTR2A+HTR2C gene mutation; serotonin-2A receptor + serotonin-2C receptor gene mutation HTR2C gene mutation; serotonin-2C receptor gene mutation HTT gene mutation HYAL1 gene mutation hypertrophic cardiomyopathy gene mutation IDH2 gene mutation (RealTime IDH2 Assay) IDS gene mutation IDUA gene mutation IFITM5 gene mutation IFNL3 (IL28B) variation rs12979860 IgVH gene mutation analysis IKBKAP gene mutation; DYS gene mutation (in Loinc) IKBKG gene mutation INS gene mutation IRF6 gene mutation; interferon regulatory factor 6 gene mutation isocitrate dehydrogenase-1 (IDH1) gene mutation ITGA2B gene mutation ITGB3 gene mutation IVD gene mutation JAG1 gene mutation; jagged-1 gene mutation JAK2 mutation JAK3 gene mutation; janus kinase 3 gene mutation Kallman syndrome gene mutation KARS gene mutation KCNC3 gene mutation KCNH2 gene mutation KCNJ11 gene mutation KCNQ1 gene mutation; KCNQ1OT1 gene mutation KCNQ2 gene mutation KEL gene mutation KIAA0196 gene mutation; strumpellin gene mutation kit gene mutation (CD117 gene mutation) Kras gene mutation analysis KRIT1 gene mutation L1CAM gene mutation LAMA2 gene mutation; laminin alpha-2 gene mutation LAMA3 gene mutation LAMB3 gene mutation LAMC2 gene mutation LCA5 gene mutation LCT gene mutation LDL receptor (LDLR) gene mutation leptin gene mutation LHON syndrome gene mutation LITAF gene mutation; LPS-induced TNF-alpha factor gene mutation LMNA gene mutation; lamin A/C gene mutation LMX1B gene mutation; LIM homeobox transcription factor 1 beta gene mutation LRRK2 gene mutation MAN2B1 gene mutation MAOA gene upstream VNTR repeats MAP2K1 gene mutation; MAPK kinase 1 gene mutation MAP2K2 gene mutation; MAPK kinase 2 gene mutation MAPT gene mutation; microtubule-associated protein tau gene mutation MARS2 gene mutation MBL2 gene mutation MC4R gene mutation; melanocortin 4 receptor gene mutation MCM6 gene mutation MDCR gene mutation MED12 gene mutation; activator-recruited cofactor 240 kD component gene mutation medium-chain acyl CoA dehydrogenase (ACADM, MCAD) gene mutation MEFV (pyrin) gene mutation MELAS gene mutation MEN1 gene mutation; menin (multiple endocrine neoplasia 1) gene mutation MERRF gene mutation MFN2 gene mutation; transmembrane GTPase MFN2 gene mutation mitochondrial DNA complex I mutation mitochondrial DNA complex III mutation mitochondrial DNA complex IV mutation mitochondrial DNA complex V mutation mitochondrial gene mutations mitochondrial myopathy gene mutation mitochondrial rRNA mutation mitochondrial tRNA mutation MLC1 gene mutation MLH1 gene deletion & duplication MLH1 gene mutation MLH1+MSH2+MSH6+PMS2 gene deletion, duplication & mutation analysis MLL gene mutation MPI gene mutation MPL gene mutation MPL gene p.S505N mutation; thrombopoietin receptor gene p.S505N mutation MPL gene p.W515K mutation; thrombopoietin receptor gene p.W515K mutation MPL gene p.W515L+W515K mutation; thrombopoietin receptor gene p.W515L+W515K mutation MPZ gene mutation; myelin p0 gene mutation MRPL18 gene mutation MRPL40 gene mutation MRPL44 gene mutation MRPS2 gene mutation MRPS22 gene mutation MRRF gene mutation MSH2 gene deletion & duplication MSH2 gene mutation MSH2+MLH1 gene mutations MSH2+MLH1+MSH6 gene mutations MSH6 gene deletion & duplication MSH6 gene mutation; GT mismatch-binding gene mutation MT-ATP6 gene mutation; mitochondrial ATP synthase 6 gene mutation MT-CO1 gene mutation MT-ND1 gene mutation MT-ND4 gene mutation MT-ND5 gene mutation MT-ND6 gene mutation MT-RNR1 gene mutation MT-TK gene mutation; mitochondrial thymidine kinase gene mutation; TK2 gene mutation MT-TL1 gene mutation MTFMT gene mutation MTHFR gene mutation MTM1 gene mutation; myotubularin gene mutation MTR gene mutation MUTYH gene mutation MVK gene mutation; evalonate kinase gene mutation MXI1 gene mutation MYBPC3 gene mutation MYC gene mutation MYD88 gene p.Leu265Pro mutation MYH7 gene mutation MYOC gene mutation NAGS gene mutation NARS2 gene mutation NB gene mutation NBN gene mutation; nibrin gene mutation NCF1 gene mutation NCF1+NCF2+CYBB gene mutation NCF2 gene mutation; P67PHOX gene mutation NEB gene mutation; nebulin gene mutation NEFL gene mutation; neurofilament-L gene mutation NIPA1 + REEP1 gene mutation NIPA1 gene mutation NIPBL gene mutation; nipped B-like gene mutation NOD2 gene mutation; caspase recruitment domain protein 15 gene mutation NOTCH3 gene mutation NPC1 gene mutation NPDC gene mutation; neural proliferation differentiation & control protein 1 gene mutation NPHP1 gene mutation; nephrocystin-1 gene mutation NPHS1 gene mutation NPHS2 gene mutation; podocin gene mutation NPM1 gene mutation NR0B1 gene mutation NRAS gene mutation NSD1 gene mutation ob (leptin) receptor gene mutation OCA2 gene mutation OCRL1 gene mutation OPA1 gene mutation OPA3 gene mutation OTC gene mutation; ornithine carbamoyltransferase gene mutation OTOF gene mutation; otoferlin gene mutation PABPN1 gene mutation; polyadenylate-binding protein 2 gene mutation PAH gene mutation; phenylalanine hydroxylase gene mutation; phenylketonuria genotyping PALB2 gene mutation PANK2 gene mutation; pantothenate kinase 2 gene mutation PARK2 gene mutation; parkin gene mutation PARK7 gene mutation PAX3 gene mutation PAX6 gene mutation PCCA+PCCB gene mutation PCDH15 gene mutation PCSK9 gene mutation PDCD10 gene mutation PDGF receptor alpha (PDGFRA) gene mutation PDHA1 gene mutation peripheral myelin protein 22 (PMP22) gene mutation peripheral neuropathy gene mutation PEX1 gene mutation PEX7 gene mutation PHEX gene mutation PHOX2B gene mutation; paired mesodermal homeobox protein 2B gene mutation PIK3CA gene mutation PINK1 gene mutation PKD1+PKD2 gene mutation PKD1+PKD2 gene mutations PKD2 gene mutation; polycystic kidney disease protein 2 gene mutation PKHD1 gene mutation; polycystic kidney & hepatic disease 1 gene mutation PKLR gene mutation PLOD1 gene mutation; lysyl hydroxlase gene mutation PLOD2 gene mutation PLOD3 gene mutation PLP1 gene mutation PMM2 gene mutation PMS2 gene deletion, duplication & mutation analysis PNKD gene mutation POLG gene mutation POMGNT1 gene mutation POMT1 gene mutation; protein-O-mannosyltransferase 1 gene mutation POMT2 gene mutation; protein-O-mannosyltransferase 2 gene mutation PON1 gene mutation POU3F4 gene mutation; Pou domain class 3 transcription factor 4 gene mutation PPT1 gene mutation; palmitoyl protein thioesterase 1 gene mutation presenilin 1 (PSEN1) genetic mutation analysis PRF1 gene mutation; perforin 1 gene mutation PRNP gene mutation PROP1 gene mutation PROS1 gene mutation; protein S gene mutation PRSS1 gene mutation PRX gene mutation; periaxin gene mutation PSEN1 gene mutation PSEN2 gene mutation PTCH gene mutation PTEN gene mutation; MAC1 gene mutation PTPN11 gene mutation; protein tyrosine phosphatase 11 gene mutation PTPN22 gene mutation PWS gene mutation PYGM gene mutation; phosphorylase M gene mutation RAF1 gene mutation RAI1 gene mutation; retinoic acid induced protein 1 gene mutation RB1 gene mutation REEP1 gene mutation RET gene mutation; RET fusion gene RHCE gene mutation RHD gene mutation RHD+RHC gene mutations RMRP gene mutation ROS1 gene mutation; ROS1 gene fusion; ROS1 gene rearrangement RPGR gene mutation RPGRIP1 gene mutation RPS19 gene mutation; 40S ribosomal protein S19 gene mutation RPS6KA3 gene mutation; ribosomal S6 kinase 3 gene mutation RS1 gene mutation; retinoschisin gene mutation RYR1 gene mutation SACS gene mutation SARS2 gene mutation SBDS gene mutation; Shwachman-Bodian-Diamond syndrome gene mutation SCA gene mutation SCARB1 gene mutation; CLA2 gene mutation (in Loinc) SCN1A gene mutation SCN4A gene mutation SCN5A gene mutation; sodium channel protein 5-alpha gene mutation SCO1 gene mutation SCO2 gene mutation SDHA gene mutation SDHB gene mutation; succinate dehydrogenase iron-sulfur subunit gene mutation SDHC gene mutation; cytochrome B560 gene mutation SDHD gene mutation; succinate dehydrogenase complex subunit D gene mutation SEPT9 gene mutation SERPINA1 gene mutation; alpha-1 antitrypsin gene mutation SERPINA10 gene mutation SERPINC1 gene mutation SERPINE1 gene mutation SERPINF1 gene mutation SERPING1 gene mutation SFTPB gene mutation; pulmonary surfactant-associated protein B gene mutation SFTPC gene mutation; pulmonary surfactant-associated protein C gene mutation SGCA gene mutation; adhalin gene mutation SGCB gene mutation; beta-sarcoglycan gene mutation SGCG gene mutation SGSH gene mutation; N-sulphoglucosamine sulfohydrolase gene mutation SH2D1A gene mutation; SH2 domain protein 1A gene mutation SH3BP2 gene mutation; SH2 domain binding protein 2 gene mutation SH3TC2 gene mutation SHOX gene mutation; short stature homeobox gene mutation SI gene mutation SLC12A3 gene mutation SLC12A6 gene mutation SLC14A1 gene mutation SLC17A5 gene mutation SLC22A18 gene mutation; solute carrier family 22 member 18 gene mutation SLC22A5 gene mutation; solute carrier family 22 member 5 gene mutation SLC25A13 gene mutation; solute carrier family 25 member 13 gene mutation SLC25A4 gene mutation; solute carrier family 25 member 4 gene mutation SLC26A2 gene mutation SLC26A4 gene mutation; solute carrier family 26 member 4 gene mutation; pendrin gene mutation SLC26A5 gene mutation SLC37A4 gene mutation SLC40A1 gene mutation SLC6A4 gene mutation; solute carrier family 6 member 4 gene mutation; 5-HT transporter gene mutation SMA gene mutations SMAD4 gene mutation SMC1A gene mutation; structural maintenance of chromosomes 1A gene mutation SMN1 gene mutation; survival motor neuron protein 1 gene mutation SMN1+SMN2 gene mutation SMN2 gene mutation SMPD1 (sphingomyelin phosphodiesterase) gene mutation; Niemann-Pick Disease Interpretation SNCA gene mutation SNRPN gene 15q11 mutation SOD1 gene mutation; copper-zinc superoxide dismutase gene mutation SOS1 gene mutation SPAST gene mutation; spastin gene mutation SPG11 gene deletion, duplication & mutation analysis SPG3A gene mutation SPINK1 gene mutation; Kazak pancreatic trypsin inhibitor gene mutation SPTLC1 gene mutation SRY gene mutation STK11 gene mutation STS gene deletion; arylsulfatase C gene deletion SUGCT gene mutation SURF1 gene mutation; surfeit 1 gene mutation TARDBP gene mutation TAT gene mutation TBX5 gene mutation; T-box protein 5 gene mutation TCOF1 gene mutation TFB1M gene mutation TGFB3 gene mutation; TGF beta-3 gene mutation TGFBR1 gene mutation; TGF beta receptor 1 gene mutation TGFBR1+TGFBR2 gene mutation TGFBR2 gene mutation; TGF beta receptor 2 gene mutation TGM1 gene mutation; transglutaminase 1 gene mutation TH gene mutation; tyrosine hydroxylase gene mutation thiopurine methyltransferase (TPMT) gene mutation THRB gene mutation TMEM216 gene mutation TNF receptor family member 13B (TNFRSF13B) gene mutation TNFRSF1A gene mutation; TNF receptor 1 gene mutation TNNT2 gene mutation TNNT3 gene mutation TOR1A gene mutation TP53 gene mutation TP73L gene mutation; p63 gene mutation TPP1 gene mutation TRAF3 gene mutation; CRAF1 gene mutation transferrin (TF) gene mutation TRAPPC2 gene mutation; sedlin gene mutation TRPS1 gene mutation TSC gene mutation; tuberin gene mutation TSC1 gene mutation; hamartin gene mutation TSC2 & PKD1 gene deletion & duplication TSC2 gene mutation; tuberin gene mutation TTR gene mutation; transthyretin gene mutation TWIST1 gene mutation TYR gene mutation; tyrosinase gene mutation TYROBP gene mutation UBE3A gene mutation UGT1A1 gene mutation UGT2B15 gene mutation UMOD gene mutation; uromoduin gene mutation UNC13D gene mutation USH1C gene mutation USH2A gene mutation; Usher syndrome type 2a gene mutation VAPB gene mutation VHL gene mutation; von Hippel-Lindau disease tumor suppressor gene mutation VPS13B gene mutation; Cohen syndrome protein 1 gene mutation VWF gene mutation; von Willebrand factor gene mutation WAS gene mutation WFS1 gene mutation; wolframin gene mutation WS2A gene mutation; MITF gene mutation WT1 gene mutation YY1 gene mutation

References

CPT