| Available Tests |
|---|
| ABCA3 ( ABC3 ) |
|---|
| ABCB1 ( GY1, MDR1, CLCS ) |
|---|
| ABCC8 ( CFTR/MRP ) |
|---|
| ABCD1 ( ALD ) |
|---|
| ACADM |
|---|
| ACADS |
|---|
| ACTA1 |
|---|
| ACTA2 |
|---|
| ADSL |
|---|
| AFF2 |
|---|
| ALDOB ( ALDOB ) |
|---|
| AMELY |
|---|
| ANCR |
|---|
| APC |
|---|
| APOB |
|---|
| APOC2 |
|---|
| APOE ( AD2 ) |
|---|
| APP ( AD1 ) |
|---|
| AR ( DHTR, SBMA, AIS, NR3C4, SMAX1, HUMARA ) |
|---|
| ARSA |
|---|
| ARSB |
|---|
| ARX |
|---|
| ASPA ( Canavan disease ) |
|---|
| ATL1 ( SPG3, SPG3A, FSP1, AD-FSP ) |
|---|
| ATM |
|---|
| ATN1 ( D12S755E, DRPLA, B37 ) |
|---|
| ATP13A2 ( PARK9, HSA9947 ) |
|---|
| ATP1A2 ( FHM2 ) |
|---|
| ATXN1 ( SCA1, D6S504E, ATX1 ) |
|---|
| ATXN2 ( SCA2, TNRC13, ATX2 ) |
|---|
| ATXN3 ( SCA3, MJD, ATX3, JOS ) |
|---|
| ATXN7 ( SCA7, OPCA3, ADCAII ) |
|---|
| AVP ( neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal ) |
|---|
| BCL2 |
|---|
| BCL6 ( zinc finger protein 51 ) |
|---|
| BCR/ABL1 |
|---|
| BIRC3/MALT1 |
|---|
| BLM |
|---|
| BMPR1A |
|---|
| BRAF |
|---|
| BRCA1 |
|---|
| BRCA2 ( FANCD1, FACD, FANCD, FAD, FAD1, BRCC2 ) |
|---|
| CACNA1A ( CACNL1A4, SCA6, MHP1, MHP, Cav2.1, EA2, APCA, HPCA, FHM ) |
|---|
| CACNA1S |
|---|
| CAPN3 ( LGMD2, LGMD2A, CANP3, p94, nCL-1 ) |
|---|
| CASR ( HHC, HHC1, FHH, NSHPT, GPRC2A ) |
|---|
| CAV3 |
|---|
| CBFB |
|---|
| CBFB/MYH11 |
|---|
| CBL ( CBL2 ) |
|---|
| CCM2 |
|---|
| CCND1 |
|---|
| CCR5 ( CMKBR5, CKR-5, CC-CKR-5, CKR5, CD195 ) |
|---|
| CD109 ( FLJ38569, DKFZp762L1111, CPAMD7 ) |
|---|
| CD177 |
|---|
| CD36 ( thrombospondin receptor ) |
|---|
| CDH1 ( UVO ) |
|---|
| CDKL5 ( "serine/threonine kinase 9", STK9 ) |
|---|
| CDKN1C ( BWCR, BWS, P57, KIP2 ) |
|---|
| CDKN2A ( CDKN2, MLM, CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a ) |
|---|
| CEBPA ( CEBP ) |
|---|
| CFTR ( ATP-binding cassette sub-family C, member 7 ) |
|---|
| CHIC2 |
|---|
| Chromosome_1 |
|---|
| Chromosome_10 |
|---|
| Chromosome_11 |
|---|
| Chromosome_12 |
|---|
| Chromosome_13 |
|---|
| Chromosome_14 |
|---|
| Chromosome_15 |
|---|
| Chromosome_16 |
|---|
| Chromosome_17 |
|---|
| Chromosome_18 |
|---|
| Chromosome_19 |
|---|
| Chromosome_2 |
|---|
| Chromosome_20 |
|---|
| Chromosome_21 |
|---|
| Chromosome_22 |
|---|
| Chromosome_3 |
|---|
| Chromosome_4 |
|---|
| Chromosome_5 |
|---|
| Chromosome_6 |
|---|
| Chromosome_7 |
|---|
| Chromosome_8 |
|---|
| Chromosome_9 |
|---|
| Chromosome_X |
|---|
| Chromosome_Y |
|---|
| CLCN1 ( Thomsen disease, autosomal dominant ) |
|---|
| CLN3 ( Batten, Spielmeyer-Vogt disease ) |
|---|
| CNBP |
|---|
| COL1A1 |
|---|
| COL1A2 ( OI4, "osteogenesis imperfecta type IV" ) |
|---|
| CPOX ( CPOX (also called CPO, CPX, HCP) ) |
|---|
| CRYAB |
|---|
| CTNS |
|---|
| CYP1B1 ( GLC3A ) |
|---|
| CYP21A2 |
|---|
| CYP2C19 ( CYP2C, P450IIC19, CPCJ ) |
|---|
| CYP2C9 ( CYP2C10, P450IIC9 ) |
|---|
| CYP2D6 ( CYP2DL1, CPD6, P450-DB1, CYP2D, P450C2D ) |
|---|
| DCX ( doublecortin ) |
|---|
| DDIT3 |
|---|
| DES |
|---|
| DGCR |
|---|
| DGCR10 |
|---|
| DHCR7 |
|---|
| DLEU1 |
|---|
| DMD ( muscular dystrophy, Duchenne and Becker types ) |
|---|
| DMPK |
|---|
| EBP ( sterol isomerase ) |
|---|
| EGFR ( "epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)", ERBB ) |
|---|
| ELN ( supravalvular aortic stenosis, Williams-Beuren syndrome ) |
|---|
| EMD ( "Emery-Dreifuss muscular dystrophy" ) |
|---|
| ETV6 ( TEL oncogene ) |
|---|
| ETV6/RUNX1 ( TEL/AML ) |
|---|
| EVI1 |
|---|
| EWSR1 |
|---|
| EWSR1/ERG ( EWS/ERG ) |
|---|
| EWSR1/FLI1 ( EWS/FLI1 ) |
|---|
| EWSR1/WT1 ( EWS/WT1, WT1/EWS ) |
|---|
| EXT1 ( LGCR, LGS, ttv ) |
|---|
| F13A1 |
|---|
| F13A2 |
|---|
| F13A3 |
|---|
| F13B |
|---|
| F2 |
|---|
| F5 |
|---|
| F8 ( F8C, FVIII, DXS1253E, HEMA ) |
|---|
| F9 |
|---|
| FAH ( fumarylacetoacetase ) |
|---|
| FANCC |
|---|
| FBN1 |
|---|
| FCGR2A ( FCG2, FCGR2A1, FCGR2 ) |
|---|
| FCGR3A ( FCGR3, FCG3 ) |
|---|
| FECH ( FECH ) |
|---|
| FGA |
|---|
| FGFR3 ( achondroplasia, thanatophoric dwarfism ) |
|---|
| FIP1L1/PDGFRA |
|---|
| FKRP |
|---|
| FLT3 |
|---|
| FMR1 |
|---|
| FSHMD1A ( FMD, FSHD, D4Z4 ) |
|---|
| FTL ( FTL ) |
|---|
| FXN ( FRDA, FA, FARR, X25, CyaY ) |
|---|
| G6PC |
|---|
| GALC |
|---|
| GALNS ( GALNAC6S, GAS, ) |
|---|
| GALT |
|---|
| GBA ( includes glucosylceramidase ) |
|---|
| GCH1 ( GCH, DYT5, GTPCH1 ) |
|---|
| GCK ( hexokinase 4 ) |
|---|
| GDAP1 |
|---|
| GFAP |
|---|
| GJB1 ( CMTX1, CMTX, CX32 ) |
|---|
| GJB2 |
|---|
| GJB6 |
|---|
| GLA |
|---|
| GLUD1 |
|---|
| GP1BA ( GP1B ) |
|---|
| GP1BB ( CD42c ) |
|---|
| GP2 |
|---|
| GP5 ( CD42d ) |
|---|
| GP6 ( GPVI ) |
|---|
| GP9 ( CD42a, GPIX ) |
|---|
| GPA33 ( A33 ) |
|---|
| GRN |
|---|
| GUSB |
|---|
| H19 |
|---|
| HADHA ( trifunctional protein ) |
|---|
| HBA1 |
|---|
| HBA2 |
|---|
| HBB |
|---|
| HBD ( HBD ) |
|---|
| HBG1 ( HBG1 ) |
|---|
| HBG2 ( HBG2 ) |
|---|
| HEXA ( "GM2 gangliosidosis", "Tay Sachs disease" ) |
|---|
| HEXB |
|---|
| HFE |
|---|
| HIRA ( DGCR1, ) |
|---|
| HLA-A |
|---|
| HLA-B |
|---|
| HLA-B*27 |
|---|
| HLA-B*5701 |
|---|
| HLA-C ( HLA-JY3, D6S204 ) |
|---|
| HLA-DPA1 |
|---|
| HLA-DPB1 ( HLA-DP1B ) |
|---|
| HLA-DQA1 ( HLA-DQA, CELIAC1 ) |
|---|
| HLA-DQB1 ( HLA-DQB, IDDM1, CELIAC1 ) |
|---|
| HLA-DRB1 ( HLA-DR1B ) |
|---|
| HLA-DRB3 ( HLA-DR3B ) |
|---|
| HLA-DRB4 ( HLA-DR4B ) |
|---|
| HLA-DRB5 |
|---|
| HMBS |
|---|
| HNF1A |
|---|
| HNF4A |
|---|
| HPRT1 ( Lesch-Nyhan syndrome ) |
|---|
| HSD17B4 |
|---|
| HTT ( HD, IT15 ) |
|---|
| IDH1 |
|---|
| IDH2 |
|---|
| IDS ( Hunter syndrome ) |
|---|
| IDUA |
|---|
| IGH@ ( IGHDY1, IGH ) |
|---|
| IGH@/BCL2 ( IGH/BCL2 ) |
|---|
| IGH@/MAF |
|---|
| IGH@/MYC |
|---|
| IGHV@ |
|---|
| IKBKAP |
|---|
| IKBKG |
|---|
| IL2RG ( severe combined immunodeficiency ) |
|---|
| INS |
|---|
| IPW |
|---|
| ITGA2 ( CD49B, CD49b ) |
|---|
| ITGA2B ( platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41 ) |
|---|
| ITGB3 ( platelet glycoprotein IIIa, antigen CD61 ) |
|---|
| JAG1 ( Alagille syndrome ) |
|---|
| JAK2 |
|---|
| KAL1 |
|---|
| KCNE1 |
|---|
| KCNE2 |
|---|
| KCNH2 |
|---|
| KCNJ11 |
|---|
| KCNJ2 |
|---|
| KCNQ1 |
|---|
| KCNQ1OT1 |
|---|
| KEL |
|---|
| KIT ( PBT ) |
|---|
| KRAS ( KRAS2, KRAS1 ) |
|---|
| KRIT1 |
|---|
| LDB3 |
|---|
| LDLR |
|---|
| LGCR |
|---|
| LMNA ( LMN1, CMD1A, LGMD1B, PRO1, LMNL1 ) |
|---|
| LRRK2 ( PARK8, ROCO2, DKFZp434H2111, FLJ45829, RIPK7 ) |
|---|
| MALT1 |
|---|
| MAPT ( DDPAC, MAPTL, MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2 ) |
|---|
| MC2R ( adrenocorticotropic hormone ) |
|---|
| MC4R |
|---|
| MCOLN1 |
|---|
| MECP2 ( Rett syndrome ) |
|---|
| MEFV ( MEF, FMF, TRIM20 ) |
|---|
| MEN1 |
|---|
| MET ( hepatocyte growth factor receptor ) |
|---|
| MFN2 |
|---|
| Mitochondrial_DNA |
|---|
| MLH1 ( COCA2, HNPCC, FCC2, HNPCC2 ) |
|---|
| MLL |
|---|
| MLL/AFF1 ( MLL/AF4 ) |
|---|
| MPL |
|---|
| MPZ ( CMT1, CMT1B, HMSNIB ) |
|---|
| MRAP ( B27, FALP ) |
|---|
| MSH2 ( COCA1, HNPCC, HNPCC1 ) |
|---|
| MSH6 ( GTBP ) |
|---|
| MSI |
|---|
| MT-ATP6 ( MTATP6, ATP6 ) |
|---|
| MT-CO1 ( MTCO1, COX1 ) |
|---|
| MT-CO2 ( MTCO2, COX2 ) |
|---|
| MT-CO3 ( MTCO3, COX3 ) |
|---|
| MT-ND1 ( MTND1, ND1, NAD1 ) |
|---|
| MT-ND4 ( MTND4, ND4, NAD4 ) |
|---|
| MT-ND5 ( MTND5, ND5, NAD5 ) |
|---|
| MT-ND6 ( MTND6, NAD6, ND6 ) |
|---|
| MT-RNR1 ( MTRNR1 ) |
|---|
| MT-TK ( MERRF, MTTK, trnK ) |
|---|
| MT-TL1 ( MTTL1, TRNL1 ) |
|---|
| MTHFR |
|---|
| MTM1 |
|---|
| MUTYH ( MYH ) |
|---|
| MYB ( c-myb ) |
|---|
| MYC ( bHLHe39, c-Myc ) |
|---|
| MYCN ( NMYC ) |
|---|
| MYOC |
|---|
| MYOT |
|---|
| NAGLU ( Sanfilippo disease IIIB ) |
|---|
| NDP ( EVR2 ) |
|---|
| NF2 ( merlin ) |
|---|
| NIPA1 ( SPG6, MGC35570 ) |
|---|
| NKX2-1 ( BCH, "benign chorea", NKX2A, "thyroid transcription factor 1", TITF1 ) |
|---|
| NLRP3 ( C1orf7, CIAS1, "cold autoinflammatory syndrome 1" ) |
|---|
| NOTCH3 ( CASIL ) |
|---|
| NPC1 |
|---|
| NPHS1 |
|---|
| NPHS2 ( podocin ) |
|---|
| NPM1 |
|---|
| NR4A2 ( NURR1, TINUR, NOT, RNR1, HZF-3 ) |
|---|
| OTC |
|---|
| PABPN1 ( OPMD, PABP2, PAB2 ) |
|---|
| PAFAH1B1 |
|---|
| PANK2 ( C20orf48, NBIA1, HSS, FLJ11729, PKAN ) |
|---|
| PARK2 |
|---|
| PARK7 |
|---|
| PAX3/FOXO1A ( PAX3/FKHR ) |
|---|
| PAX6 |
|---|
| PAX7/FOXO1A ( FKHR/PAX7 ) |
|---|
| PCSK9 ( HCHOLA3, NARC-1, FH3 ) |
|---|
| PDCD10 |
|---|
| PDGFRA |
|---|
| PDGFRB |
|---|
| PEX1 |
|---|
| PEX7 |
|---|
| PINK1 ( PARK6 ) |
|---|
| PML/RARA |
|---|
| PMM2 |
|---|
| PMP22 |
|---|
| PMS2 ( H_DJ0042M02.9, HNPCC4 ) |
|---|
| POLG |
|---|
| POU1F1 |
|---|
| PPOX ( PPO ) |
|---|
| PPP2R2B ( "PP2A subunit B isoform beta", PR52B, PR55-BETA ) |
|---|
| PPT1 ( ceroid-lipofuscinosis, neuronal 1, infantile ) |
|---|
| PRNP ( PRIP, GSS, CJD, CD230, PRP ) |
|---|
| PROP1 |
|---|
| PRSS1 |
|---|
| PSAP ( variant Gaucher disease and variant metachromatic leukodystrophy ) |
|---|
| PSEN1 ( AD3, FAD, S182, PS1 ) |
|---|
| PSEN2 ( AD4, AD3L, STM2, PS2 ) |
|---|
| PTEN ( mutated in multiple advanced cancers 1 ) |
|---|
| PTPN11 ( "Noonan syndrome 1" ) |
|---|
| PWCR |
|---|
| PYGM ( McArdle syndrome, glycogen storage disease type V ) |
|---|
| RAF1 |
|---|
| RAG1 |
|---|
| RAG2 |
|---|
| RB1 ( including osteosarcoma ) |
|---|
| RCAN1 |
|---|
| RET |
|---|
| RHCE |
|---|
| RHD |
|---|
| RUNX1 ( acute myeloid leukemia 1; aml1 oncogene ) |
|---|
| RUNX1/RUNX1T1 ( RUNX1/ETO, AML1/ETO ) |
|---|
| RYR1 ( RYR ) |
|---|
| SCN4A |
|---|
| SCN5A ( sodium channel, voltage-gated, type V, alpha (long QT syndrome 3) ) |
|---|
| SDHB |
|---|
| SDHD |
|---|
| SFTPB |
|---|
| SFTPC ( SFTP2, "surfactant, pulmonary-associated protein C" ) |
|---|
| SGSH ( sulfamidase ) |
|---|
| SHOX |
|---|
| SLC14A1 ( urea transporter ) |
|---|
| SMAD4 |
|---|
| SMARCB1 ( SNF5L1, BAF47, Ini1, Snr1, hSNFS, Sfh1p ) |
|---|
| SMCR |
|---|
| SMN1 |
|---|
| SMPD1 |
|---|
| SNCA ( PARK1, NACP, PD1 ) |
|---|
| SNCAIP |
|---|
| SNRPN |
|---|
| SOD1 ( ALS, ALS1, IPOA ) |
|---|
| SOS1 |
|---|
| SPAST ( SPG4, FSP2, ADPSP, KIAA1083 ) |
|---|
| SPG3A ( SPG3, FSP1, AD-FSP, atlastin, atlastin1, ATL1 ) |
|---|
| SPINK1 ( SPINK1 ) |
|---|
| SPTLC1 ( HSN1, LCB1, SPTI, HSAN1 ) |
|---|
| SRY |
|---|
| SS18 |
|---|
| STK11 |
|---|
| STR_19q |
|---|
| STR_1p |
|---|
| SUMF1 |
|---|
| TBP |
|---|
| TCF3 ( E2A immunoglobulin enhancer binding factors E12/E47 ) |
|---|
| TCF3/PBX1 |
|---|
| TGFBR1 ( activin A receptor type II-like kinase, 53kDa ) |
|---|
| TGFBR2 |
|---|
| TH |
|---|
| TNFRSF1A |
|---|
| TOR1A ( torsin A ) |
|---|
| TP53 |
|---|
| TPM3 |
|---|
| TPMT |
|---|
| TPP1 |
|---|
| TRAPPC2 |
|---|
| TRB@ ( TCRB, TRB ) |
|---|
| TRG@ ( TCRG, TRG ) |
|---|
| TSPY1 |
|---|
| TTR ( PALB, HsT2651 ) |
|---|
| UBE3A ( EPVE6AP, HPVE6A, AS, ANCR, E6-AP, FLJ26981 ) |
|---|
| UCHL1 ( PARK5, PGP9.5, Uch-L1 ) |
|---|
| UGT1A1 ( UGT1, GNT1, UGT1A ) |
|---|
| UROD ( UROD ) |
|---|
| VHL |
|---|
| VKORC1 ( VKCFD2 ) |
|---|
| VWF |
|---|
| WBS2 |
|---|
| WFS1 ( wolframin ) |
|---|
| WHCR |
|---|
| WT1 ( GUD, WAGR, WIT-2 ) |
|---|
