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Genetic Test Panels:

In addition to the above, following genetic panels can be performed for specific conditions and diseases. These tests are done for specific clinical indications and results are interpreted in the context of complete clinical picture. 

  1. Autism panel - ADNP, AHDC1, ANKRD11, ARID1A, ARID1B, ASXL1, ASXL3, ATRX, AUTS2, CACNA1A, CASK, CDKL5, CHD2, CHD7, CHD8, CLCN4, CNTNAP2, CREBBP, CSNK2A1, CTCF, CTNNB1, CTNND2, DDX3X, DHCR7, DNMT3A, DYNC1H1, DYRK1A, EFTUD2, EHMT1, EP300, FOXG1, FOXP1, GATAD2B, GNAO1, GPC3, GRIA3, GRIN1, GRIN2B, HUWE1, IL1RAPL1, IQSEC2, ITPR1, KAT6A, KAT6B, KCNB1, KDM5C, KDM6A, KIAA2022, KIF1A, KMT2A, KMT2D, MAP2K1, MBD5, MECP2, MED12, MED13L, MEF2C, MTOR, MYT1L, NALCN, NF1, NR2F1, NRXN1, NSD1, OPHN1, PACS1, PLA2G6, POGZ, PPP2R5D, PQBP1, PTCHD1, PTEN, PTPN11, PURA, RAI1, RIT1, RPS6KA3, SATB2, SCN1A, SCN2A, SCN8A, SETBP1, SETD5, SHANK3, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMC1A, SOS1, STXBP1, SYNGAP1, TBL1XR1, TCF4, TRIO, TSC1, TSC2, UBE3A, USP9X, WAC, WDR45, ZC4H2, ZEB2

  2. Ataxia panel - > 1000 

  3. Arrhythmia panel - ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, GATA4, GATA5, GATA6, GJA5, GNB5, GPD1L, HCN4, JUP, KCNA5 , KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNH2 (HERG), KCNJ2, KCNJ5, KCNJ8, KCNQ1, LDB3, LMNA, MYL4, NKX2-5, PKP2, PLN, PPA2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TECRL, TGFB3, TMEM43, TRDN, TRPM4, TTN

  4. Amyotrophic lareral sclerosis - ALS2, ANG, CHCHD10, CHMP2B, FUS, GRN, HNRNPA2B1, MAPT, MATR3, OPTN, PFN1, PRPH, SETX, SLC52A3, SOD1, SPG11, SQSTM1, TAF15, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP

  5. Breast/Gyn Cancer - ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD51C, RAD51D, RECQL, TP53

  6. Brain Cancer - APC, CDKN1B, CDKN2A, DICER1, EPCAM, MEN1, MLH1, MSH2, MSH6, NF1, NF2, PMS2, POT1, PTCH1, PTEN, SMARCA4, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL

  7. Brugada Syndrome - ABCC9, CACNA1C, CACNA2D1, CACNB2, GPD1L, HCN4, KCND3, KCNE3, KCNH2 (HERG), KCNJ8, PKP2, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, TRPM4

  8. Cataract panel - ABCA3, ADAMTSL4, AGK, AKR1E2, ALDH18A1, BCOR, BEST1, BFSP1, BFSP2, CHMP4B, COL11A1, COL2A1, COL4A1, COL4A2, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, CYP51A1, EOGT, EPHA2, FAM126A, FOXC1, FOXE3, FTL, FYCO1, FZD4, GALK1, GCNT2, GFER, GJA1, GJA3, GJA8, HMX1, HSF4, JAM3, LIM2, LONP1, LSS, MAF, MIP, MIR184, MYH9, NDP, NF2, NHS, OCRL, OPA3, P3H2, PAX6, PITX2, PITX3, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RECQL4, RGS6, RNLS, RRAGA, SC5D, SIL1, SIPA1L3, SIX6, SLC16A12, SLC33A1, TBC1D20, TDRD7, TFAP2A, TMEM70, UNC45B, VIM, VSX2 (CHX10), WDR87, WFS1, WRN

  9. Charcot Marie Tooth - AARS, AIFM1, BSCL2, DNAJB2, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HSPB1, HSPB8, IGHMBP2, INF2, KIF5A, LITAF, LMNA, LRSAM1, MFN2, MME, MORC2, MPZ, MTMR2, NDRG1, NEFL, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SH3TC2, SLC12A6, TRIM2, TRPV4, YARS

  10. Colorectal Cancer Panel - APC, ATM, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SCG5/GREM1, SMAD4, STK11, TP53

  11. Cardiomyopathy Panel - ABCC9, ACTC1, ACTN2, AKAP9, ALMS1, ALPK3, ANKRD1, BAG3, BRAF, CAV3, CHRM2, CRYAB, CSRP3, CTNNA3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, GAA, GATA4, GATAD1, GLA, HCN4, HFE, HRAS, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3, LMNA, LRRC10, MAP2K1, MAP2K2, MIB1, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NRAS, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RYR2, SCN5A, SGCD, SHOC2, SOS1, TAZ, TBX20, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TOR1AIP1, TPM1, TTN, TTR, TXNRD2, VCL

Important Notice:

This website and its contents are for the purposes of general information and education only and are not to be used for diagnosis or treatment without the supervision of a healthcare provider.

Email drdar@drdarmd.com for general information

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