gene mutation testing; gene mutation analysis

More general terms

• molecular diagnostic test

More specific terms

• 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