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| Test # | Test Name | Additional Information | Specialty | Test Keywords |
|---|---|---|---|---|
| 5-Fluorouracil Sensitivity | ||||
| 2012166 | Dihydropyrimidine Dehydrogenase (DPYD) Genotyping, 3 Mutations | 5-Fluorouracil Sensitivity | DYPD 5-Fluorouracil toxicity 5-FU toxicity 5-FU toxicity 5FU toxicity Adrucil (DPYD) Genotyping, 3 Mutations Xeloda (capecitabine) (DPYD) Genotyping, 3 Mutations DPD Uftoral (tegafur/uracil) (DPYD) Genotyping, 3 Mutations | |
| Achondroplasia | ||||
| 0051266 | Achondroplasia (FGFR3) 2 Mutations | Achondroplasia | AD PCR, Skeletal Dysplasias, Neuroblastoma | |
| 0051265 | Achondroplasia Mutation, Fetal | Achondroplasia | AD PCR FE, Skeletal Dysplasias | |
| Alpha Thalassemia | ||||
| 3000142 | Alpha Fetoprotein (Amniotic Fluid) with Reflex to Acetylcholinesterase and Fetal Hemoglobin | Alpha Fetoprotein, Amniotic Fluid, AF AFP, Prenatal Screening and Diagnosis ACHE | ||
| Alpha ThalassemiaAlpha Thalassemia, HBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin, ALPHA THAL, AG FGA, Hemoglobinopathies | ||||
| 3003651 | Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring | HBA DDCS, A globin, Alpha globin gene analysis, Alpha globin mutations | ||
| 2011622 | Alpha Globin (HBA1 and HBA2) Deletion/Duplication | Alpha Thalassemia, HBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin, Hemoglobinopathies | ||
| 2011708 | Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication | Alpha Thalassemia, AG FGA, Hemoglobinopathies | ||
| 3003656 | Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring, Fetal | HBA DDCSFE, A globin, Alpha globin gene analysis, Alpha globin mutations | ||
| Alport Syndrome | ||||
| 3002685 | Alport Syndrome Panel, Sequencing and Deletion/Duplication | COL4A3, COL4A4, COL4A5, MYH9, Familial nephritis, hereditary nephritis, MYH9-associated disorder, MYH9-related disease, thin basement membrane disease, thin basement membrane nephropathy | ||
| Alzheimer's Disease | ||||
| 3001585 | Early-Onset Alzheimer's Panel, Sequencing | Alzheimer's Disease, APOE AZ, e2, e3, e4, APP, PSEN1, PSEN2 | ||
| 2013341 | Apolipoprotein E (APOE) Genotyping, Alzheimer Disease Risk | Alzheimer's Disease | APOE AZ | |
| Angelman Syndrome | ||||
| 3006247 | Angelman Syndrome and Prader-Willi Syndrome by Methylation-Specific MLPA | Angelman Syndrome, AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments, UBE3A | ||
| Aortopathies | ||||
| 2006540 | Aortopathy Panel, Sequencing and Deletion/Duplication | Aortopathies | AORT PANEL, Thoracic aortic aneurysms, dissections, familial thoracic TAAD AAT, ACTA2 (AAT6), FBN1, MYH11 (AAT4), MYLK (AAT7), SMAD3, TGFBR1 (AAT5), TGFBR2 (AAT3), SLC2A10, FBN2, COL3A1 ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, MYLK, PLOD1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2 | |
| 3003947 | Loeys-Dietz Syndrome Core Panel, Sequencing | Aortopathies | TGFBR1, TGFBR2, LDS NGS, LDS FGS, Loeys-Dietz, aortic aneurysm | |
| 3004102 | Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication | Aortopathies | FBN1, FBN1 NGS | |
| Apolipoprotein E (APOE) | ||||
| 2013341 | Apolipoprotein E (APOE) Genotyping, Alzheimer Disease Risk | Apolipoprotein E (APOE) | APOE AZ | |
| 2013337 | Apolipoprotein E (APOE) Genotyping, Cardiovascular Risk | Apolipoprotein E (APOE) | APOE CR | |
| Arthrogryposis | ||||
| 3003917 | Distal Arthrogryposis Panel, Sequencing | ECEL1, FBN2, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2, DARTHR NGS,Distal contractures, ,Freeman-Sheldon syndrome, Congenital contractures | ||
| Ashkenazi Jewish Panel (16 disorders) | ||||
| 0051415 | Ashkenazi Jewish Diseases, 16 Genes | Ashkenazi Jewish Panel (16 disorders) | AJP, Jewish Genetic, Fanconi's, Fanconis,ABCC8, TMEM216, NEB, G6PC, DLD, BCKDHB, CLRN1, PCDH15 | |
| 2013725 | ABCC8-Related Hyperinsulinism, 3 Variants | Ashkenazi Jewish Panel (16 disorders) | ||
| 2013745 | NEB-Related Nemaline Myopathy, 1 Variant | Ashkenazi Jewish Panel (16 disorders) | ||
| 0051433 | Bloom Syndrome (BLM),1 Variant | Ashkenazi Jewish Panel (16 disorders) | BLM, Jewish Genetic | |
| 0051453 | Canavan Disease (ASPA), 4 Variants | Ashkenazi Jewish Panel (16 disorders) | ASPA, Jewish Genetic | |
| 3005882 | Dysautonomia, Familial (ELP1), 2 Variants | Ashkenazi Jewish Panel (16 disorders) | IKBKAP, Jewish Genetic Disease | |
| 0051468 | Fanconi Anemia Group C, (FANCC), 2 Variants | Ashkenazi Jewish Panel (16 disorders) | FANCC, Jewish, Ashkenazi, Fanconi's, Fanconis, carrier testing, DNA | |
| 2013740 | Glycogen Storage Disease, Type 1A (G6PC), 9 Variants | Ashkenazi Jewish Panel (16 disorders) | ||
| 2013909 | Joubert Syndrome Type 2 (TMEM216), 1 Variant | Ashkenazi Jewish Panel (16 disorders) | ||
| 2013735 | Lipoamide Dehydrogenase Deficiency (DLD), 2 Variants | Ashkenazi Jewish Panel (16 disorders) | ||
| 2013730 | Maple Syrup Urine Disease, Type 1B (BCKDHB), 3 Variants | Ashkenazi Jewish Panel (16 disorders) | ||
| 0051448 | Mucolipidosis Type IV (MCOLN1), 2 Variants | Ashkenazi Jewish Panel (16 disorders) | MCOLN1, Jewish Genetic, lysosomal | |
| 0051458 | Niemann-Pick, Type A (SMPD1), 4 Variants | Ashkenazi Jewish Panel (16 disorders) | SMPD1, Jewish Genetic, acid sphingomyelinase, ASM, NP-A, lysosomal storage, L302P, 1bp del fsP330, R496L, R608del | |
| 0051428 | Tay-Sachs Disease (HEXA), 7 Variants | Ashkenazi Jewish Panel (16 disorders) | HEXA, Jewish Genetic, Hex A, GM2 gangliosidosis, hexosaminidase, lysosomal storage, delta 7.6kb, IVS9(+1)G>A, 1278insTATC, IVS12(+1)G>C, G269S, R247W, R249W | |
| 2013750 | Usher Syndrome, Types 1F and 3 (PCDH15 and CLRN1), 2 Variants | Ashkenazi Jewish Panel (16 disorders) | ||
| 0051438 | Gaucher Disease (GBA), 8 Variants | Ashkenazi Jewish Panel (16 disorders) | GBA, Jewish Genetic, Glucocerebrosidase, Glucosylceramidase | |
| Autism | ||||
| 2014314 | Autism and Intellectual Disability Comprehensive Panel | Autism | Creatine, epilepsy, amino acids, organic acids, mucopolysaccharidoses (MPS), MPS, acylcarnitine, mental retardation, Fragile X, microarray | |
| Beckwith-Wiedemann | ||||
| 3001635 | Beckwith-Wiedemann Syndrome (BWS) and Russell-Silver Syndrome (RSS) by Methylation-Specific MLPA | Beckwith-Wiedemann | ||
| Behcet Disease | ||||
| 3017549 | HLA-B51 Genotyping, Behcet Disease | Behcet Disease | ||
| Beta Globin | ||||
| 3004547 | Beta Globin (HBB) Gene Sequencing | Hemoglobinopathies | ||
| 3004550 | Beta Globin (HBB) Sequencing, Fetal | Beta Globin | BG SEQ FE | |
| 3003144 | Deletion/Duplication Analysis by MLPA | Capillary Malformation-Arteriovenous Malformation (CM-AVM) | ABCD1, ACADVL, ACVRL1, APC, ATP7A, BMPR1A, BRCA1, BRCA2, CFTR, COL4A5, ENG, F8, F9, FBN1, HBB, MECP2, MEN1, MLH1, MSH2, MSH6, NF1, OTC, PKD1, PKD2, PLOD1, PMS2, PRSS1, PTEN, RASA1, SDHB, SDHC, SDHD, SLC22A5, SHOX, SMAD4, SPINK1, SPRED1, STK11, TP53, VHL | |
| Biotinidase Deficiency | ||||
| 3004424 | Biotinidase Deficiency (BTD) Sequencing | Biotinidase Deficiency | BTD FGS, Multiple carboxylase | |
| Birt-Hogg-Dubé Syndrome | ||||
| 3005703 | Birt-Hogg-Dubé Syndrome (FLCN) Sequencing and Deletion/Duplication | Birt-Hogg-Dubé Syndrome | Birt-Hogg-Dubé Syndrome | |
| Blood Genotyping | ||||
| 0051368 | Rh Genotyping D Antigen (RhD positive/negative and RhD copy number) | Blood Genotyping | RHD, Hemolytic Disease of the Newborn, fetal erythroblastosis, isoimmunization, alloimmune hemolytic | |
| 3016640 | RhD Gene (RHD) Copy Number, Fetal | Blood Genotyping | RHD, Hemolytic Disease of the Newborn, fetal erythroblastosis, isoimmunization, alloimmune hemolytic | |
| 3002002 | RhC/c (RHCE) Antigen Genotyping | Blood Genotyping | RH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility | |
| 3016679 | RhC/c (RHCE) Antigen Genotyping, Fetal | Blood Genotyping | RH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility | |
| 3002003 | RhE/e (RHCE) Antigen Genotyping | Blood Genotyping | RH E, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility | |
| 3016682 | RhE/e (RHCE) Antigen Genotyping, Fetal | Blood Genotyping | RH E, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility | |
| 3002001 | Kell K/k Antigen (KEL) Genotyping | Blood Genotyping | KEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano | |
| 3016676 | Kell K/k (KEL) Antigen Genotyping, Fetal | Blood Genotyping | KEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano | |
| 3001053 | Red Blood Cell Antigen Genotyping | Blood Genotyping | colton,diego,dombrock,duffy,kell,kidd,landsteiner-wiener,lutheran,mns,rh,scianna | |
| 3016639 | Red Blood Cell Antigen Genotyping, Fetal | Blood Genotyping | colton,diego,dombrock,duffy,kell,kidd,landsteiner-wiener,lutheran,mns,rh,scianna | |
| Bone Marrow Failure | ||||
| 3001615 | Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplicationn | Bone Marrow Failure | Bone Marrow Failure | |
| Breast Cancer | ||||
| 3005654 | Hereditary Breast Cancer Guidelines-Based Panel, Sequencing and Deletion/Duplication | Breast Cancer | BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 | |
| 3005632 | Hereditary Breast Cancer High-Risk Panel, Sequencing and Deletion/Duplication | Breast Cancer | BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 | |
| 2012026 | Hereditary Breast and Gynecological Cancers Panel, Sequencing and Deletion/Duplication | Breast Cancer | BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 | |
| 3001855 | BRCA1 and BRCA2-Associated HBOC Syndrome Panel, Sequencing and Deletion/Duplication | Breast Cancer | BRCA FGA, BRACA, HBOC | |
| CADASIL | ||||
| 3004383 | Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL | CADASIL | opathy, NOTCH3, notch3 | |
| Cancer, Hereditary | ||||
| 2012032 | Hereditary Cancer Panel, Sequencing and Deletion/Duplication | Cancer, Hereditary | CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel | |
| Capillary Malformation-Arteriovenous Malformation | ||||
| 3003634 | Capillary Malformation-Arteriovenous Malformation (CM-AVM) Panel, Sequencing and Deletion/Duplication | Capillary Malformation-Arteriovenous Malformation (CM-AVM) | CMAVM, CMAVM NGS, RASA1, EPHB4 | |
| 3003144 | Deletion/Duplication Analysis by MLPA | Capillary Malformation-Arteriovenous Malformation (CM-AVM) | ABCD1, ACADVL, ACVRL1, APC, ATP7A, BMPR1A, BRCA1, BRCA2, CFTR, COL4A5, ENG, F8, F9, FBN1, HBB, MECP2, MEN1, MLH1, MSH2, MSH6, NF1, OTC, PKD1, PKD2, PLOD1, PMS2, PRSS1, PTEN, RASA1, SDHB, SDHC, SDHD, SLC22A5, SHOX, SMAD4, SPINK1, SPRED1, STK11, TP53, VHL | |
| Cardiomyopathy | ||||
| 2010183 | Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication | Cardiomyopathy | CARDIACPAN, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM), Arrhythmogenic right vernticular cardiomyopathy (ARVC), Left ventricular noncompaction (LVNC), catecholaminergic polymorphic ventricular tachycardia (CPVT), Brugada syndrome (BrS), Long QT syndrome (LQTS), Romano-Ward, Short QT syndrome (SQTS), ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNB2, CASQ2, CAV3, CORIN, COX15, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, FXN, GAA, GLA, GPD1L, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KLHL3, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYH10, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEXN, OBSCN, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, SYNE1, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, TTR, VCL ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNB2, CASQ2, CAV3, CORIN, COX15, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, FXN, GAA, GLA, GPD1L, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KLHL3, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYH10, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEXN, OBSCN, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, SYNE1, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, TTR, VCL, arrhythmogenic right ventricular cardiomyopathy (ARVC), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular noncompaction (LVNC), long QT syndrome (LQTS), Romano-Ward, short QT syndrome (SQTS) | |
| 3001579 | Hypertrophic Cardiomyopathy Panel, Sequencing | HCM, familial hypertrophic cardiomyopathy (FHCM), Danon disease, Fabry disease, glycogen storage disease II (Pompe), Noonan syndrome, RASopathies, transthyretin amyloidosis, ACTC1, ACTN2, AGL, ALPK3, BRAF, CACNA1C, CSRP3, DES, FHL1, FLNC, GAA, GLA, HRAS, JPH2, KRAS, LAMP2, MAP2K1, MAP2K2, MYBPC3, MYH7, MYL2, MYL3, NRAS, PLN, PRKAG2, PTPN11, RAF1, RIT1, SOS1, TNNC1, TNNI3, TNNT2, TPM1, TTR | ||
| 3001581 | Dilated Cardiomyopathy Panel, Sequencing | DCM, familial dilated cardiomyopathy (FDCM), Alstrom syndrome, Barth syndrome, Carvajal syndrome, congenital disorder of glycosylation 1M, Duchenne/Becker muscular dystrophy, Emery-Dreifuss muscular dystrophy (EDMD), ABCC9, ACTC1, ACTN2, ALMS1, BAG3, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, EMD, FKTN, FLNC, GLA, JUP, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, PKP2, PLN, PRDM16, PRKAG2, RAF1, RBM20, RYR2, SCN5A, SGCD, TAZ, TCAP, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL | ||
| 3001603 | Long QT Panel, Sequencing and Deletion/Duplication | Long QT syndrome (LQTS), Andersen-Tawil syndrome, Timothy syndrome, Jervell and Lange-Nielson syndrome, short QT syndrome (SQTS), CACNA1C, CALM1, CALM2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN5A | ||
| Carrier Screening Panels | ||||
| 0051415 | Ashkenazi Jewish Diseases, 16 Genes | Carrier Screening Panels | AJP, Jewish Genetic, Fanconi's, Fanconis,ABCC8, TMEM216, NEB, G6PC, DLD, BCKDHB, CLRN1, PCDH15 | |
| 3000258 | Genetic Carrier Screen, (CF, FXS, and SMA) with Reflex to Methylation | Carrier Screening Panels | CF FX SMA | |
| 2014680 | Expanded Carrier Screen by Next Generation Sequencing | Carrier Screening Panels | ECS SEQ | |
| 2014677 | Expanded Carrier Screen by Next Generation Sequencing with Fragile X | Carrier Screening Panels | ECS SEQ FX | |
| Celiac Disease | ||||
| 3004445 | Celiac Disease HLA-DQ Genotyping | Celiac Disease | DQ2, DQ8, HLA DQ, HLA-DQ2, HLA-DQ2.2, HLA-DQ2.5, HLA-DQ8, HLA-DQA1*05, HLA-DQB1*02, and *03:02 | |
| Central Nervous System Cancer | ||||
| 3001633 | Hereditary Central Nervous System Cancer Panel, Sequencing and Deletion/Duplication | |||
| 2012032 | Hereditary Cancer Panel, Sequencing and Deletion/Duplication | Central Nervous System Cancer | CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel | |
| Charcot-Marie-Tooth Disease | ||||
| 2012160 | Charcot-Marie-Tooth Type 1A (CMT1A)/Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), PMP22 Deletion/Duplication | Charcot-Marie-Tooth Disease | CMT DD, AARS, AIFM1, ARHGEF10, ATL1, ATP7A, BAG3, BICD2, BSCL2, CCT5, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HEXA, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, MTMR2, MYH14, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRNP, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN9A, SETX, SH3TC2, SLC12A6, SLC5A7, SOX10, SPTLC1, SPTLC2, TDP1, TFG, TRIM2, TRPV4, WNK1, YARS | |
| 2012155 | Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/ Duplication with Reflex to Sequencing Panel | Charcot-Marie-Tooth Disease | CMT REFLEX, AARS, AIFM1, ARHGEF10, ATL1, ATP7A, BAG3, BICD2, BSCL2, CCT5, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HEXA, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, MTMR2, MYH14, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRNP, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN9A, SETX, SH3TC2, SLC12A6, SLC5A7, SOX10, SPTLC1, SPTLC2, TDP1, TFG, TRIM2, TRPV4, WNK1, YARS | |
| Chimerism | ||||
| 3005449 | Chimerism, Recipient, Pretransplant | Chimerism | Chimerism, STR-PRE | |
| 3005462 | Chimerism, Donor | Chimerism | Chimerism, STR-DONOR | |
| 3005468 | Chimerism, Additional Donor | Chimerism | Chimerism, STR-DONOR | |
| 3005454 | Chimerism, Posttransplant | Chimerism | Chimerism, STR-POSTSC | |
| 3005401 | Chimerism, Posttransplant, Sorted Cells (B Cells) | Chimerism | Chimerism, STR-POST | |
| 3005441 | Chimerism, Posttransplant, Sorted Cells (CD 56+ Cells) | Chimerism | Chimerism, STR-POST | |
| 3005409 | Chimerism, Posttransplant, Sorted Cells (CD33+ Cells) | Chimerism | Chimerism, STR-POST | |
| 3005433 | Chimerism, Posttransplant, Sorted Cells (CD34+ Cells) | Chimerism | Chimerism, STR-POST | |
| 3005417 | Chimerism, Posttransplant, Sorted Cells (Granulocytes) | Chimerism | Chimerism, STR-POST | |
| 3005425 | Chimerism, Posttransplant, Sorted Cells (Monocytes) | Chimerism | Chimerism, STR-POST | |
| 3005393 | Chimerism, Posttransplant, Sorted Cells (T Cells) | Chimerism | Chimerism, STR-POST | |
| Cobalamin/Propionate/Homocysteine Metabolism Related Disorders | ||||
| 2011157 | Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication | Cobalamin/Propionate/Homocysteine Metabolism Related Disorders | VB12 PANEL, "ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, HCFC1, LMBRD1, MAT1A, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, PCCA, PCCB, SUCLA2, SUCLG1, TCN1, TCN2 Methylmalonic aciduria and homocystinuria, cblJ type Combined malonic and methylmalonic aciduria Megaloblastic anemia-1, Norwegian type Homocystinuria due to cystathionine beta-synthase deficiency Methylmalonic aciduria due to transcobalamin receptor defect Megaloblastic anemia-1, Finnish type Intrinsic factor deficiency Methylmalonic acidemia and homocysteinemia, cblX type Methylmalonic aciduria and homocystinuria, cblF type Methionine adenosyltransferase deficiency Methylmalonyl-CoA epimerase deficiency Methylmalonic aciduria, cblA type Methylmalonic aciduria, cblB type Methylmalonic aciduria and homocystinuria, cblC type Methylmalonic aciduria and homocystinuria, cblD type Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity Homocystinuria-megaloblastic anemia, cblG type Homocystinuria-megaloblastic anemia, cbl E type Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Propionic acidemia Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) Transcobalamin I deficiency Transcobalamin II deficiency | |
| Cystic Fibrosis | ||||
| 3004745 | Cystic Fibrosis (CFTR) Sequencing and Deletion/Duplication | Cystic Fibrosis | CFTR FGA, Diagnostic, CF | |
| 2013661 | Cystic Fibrosis (CFTR) Expanded Variant Panel | Cystic Fibrosis | CF VAR | |
| 2013662 | Cystic Fibrosis (CFTR) Expanded Variant Panel, Fetal | Cystic Fibrosis | CF VAR FE | |
| Cytochrome P450 | ||||
| 3001524 | Cytochrome P450 Genotyping Panel | Cytochrome P450 | Cytochrome P450, CYP2C19, CYP2C8, CYP2C9, CYP2D6, CYP3A4, CYP3A5, pharmacogenetics, PGX | |
| 3004255 | Cytochrome P450 Genotyping Panel, with GeneDose Access | Cytochrome P450 | CYP2C19, CYP2C8, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP GD | |
| 3004310 | CYP2B6 | Cytochrome P450 | 2B6, cytochrome p450, bupropion, efavirenz, methadone, nevirapine | |
| 3001508 | CYP2C19 | Cytochrome P450 | Cytochrome P450, clopidogrel (Plavix), antidepressants, voriconazole, protein pump inhibitors (PPIs), omeprazole, pharmacogenetics, PGX | |
| 3001501 | CYP2C8, CYP2C9, and CYP2C cluster | Cytochrome P450 | Cytochrome P450, warfarin, Coumadin, phenytoin, sulfonylureas, glimepiride, gliclazide, glibenclamide, tolbutamide, pharmacogenetics, PGX | |
| 3001513 | CYP2D6 | Cytochrome P450 | Cytochrome P450, antidepressants, antipscyhotics, atomoxetine, tramadol, codeine, oxycodone, tamoxifen, zuclopenthixol, tropisetron, felcainide, metoprolol, propafenone, pharmacogenetics, PGX | |
| 3001518 | CYP3A4 and CYP3A5 | Cytochrome P450 | Cytochrome P450, tacrolimus, pharmacogenetics, PGX | |
| Epilepsy | ||||
| 2007545 | Childhood-Onset Epilepsy Panel, Sequencing and Deletion/Duplication | Epilepsy | CHILD EPIL, Early-onset epileptic encephalopathy, SCN1A, Sodium channel protein type 1 alpha, PCDH19, Protocadherin-19, SLC2A1, Solute carrier family 2, facilitated glucose transporter member 1, POLG, DNA polymerase subunit gamma-1, SCN2A, Sodium channel protein type 2 alpha, Generalized epilepsy with febrile seizures plus, GEFS+, SCN1A, Sodium channel protein type 1 alpha, SCN1B, Sodium channel subunit beta-1, GABRG2, Gamma-aminobutyric acid receptor subunit gamma-2, SCN2A, Sodium channel protein type 2 alpha, Juvenile Myoclonic Epilepsy, JME, EFHC1, EF-hand domain-containing protein 1, CACNB4, Voltage-dependent L-type calcium channel subunit beta-4, GABRA1, Gamma-aminobutyric acid receptor subunit alpha-1, Progressive Myoclonic Epilepsy, EPM2A, Laforin, NHLRC1, EPM2B, NHL repeat-containing protein 1, malin, CSTB, Cystatin-B, PRICKLE1, Prickle-like protein 1, Autosomal Dominant Focal Epilepsies, CHRNA4, Neuronal acetylcholine receptor alpha-4, CHRNB2, Neuronal acetylcholine receptor beta-2, CHRNA2, Neuronal acetylcholine receptor alpha-2, LGI1, Leucine-rich glioma-inactivated protein 1, atypical Rett syndromes, MECP2, Methyl CpG binding protein 2, CDKL5, Cyclin-dependent kinase-like 5, FOXG1, Forkhead box protein G1, Angelman, Angelman-like, Pitt-Hopkins, UBE3A, Ubiquitin protein ligase E3A, SLC9A6, Sodium/hydrogen exchanger 6, TCF4, Transcription factor 4, NRXN1, Neurexin-1, CNTNAP2, Contactin-associated protein-like 2, Mowat-Wilson, ZEB2, Zinc finger E-box-binding, homeobox 2, Creatine deficiency, GAMT, Guanidinoacetate N-methyltransferase, GATM, Glycine amidinotransferase, mitochondrial, Neuronal Ceroid Lipofuscinoses, NCL, PPT1, CLN1, Palmitoyl-protein thioesterase 1, TPP1, CLN2,Tripeptidyl-peptidase 1, CLN3, Battenin, CLN5, Ceroid-lipofuscinosis neuronal protein 5, CLN6, Ceroid-lipofuscinosis neuronal protein 6, MFSD8, CLN7, Major facilitator superfamily domain-containing protein 8, CLN8, Ceroid-lipofuscinosis neuronal protein 8, CTSD, CLN10, Cathepsin D, Adenosuccinate lyase deficiency, ADSL, Adenylosuccinate lyase, SYN1, Synapsin-1, Microcephaly with early-onset intractable seizures and developmental delay, MCSZ, PNK, Bifunctional polynucleotide, phosphatase/kinase, seizures, GeneDx | |
| 2007535 | Infantile-Onset Epilepsy Panel, Sequencing and Deletion/Duplication | Epilepsy | INFANT EPIL; SCN1A; PCDH19; SLC2A1; POLG; SCN2A; SCN1A; SCN1B; GABRG2; EFHC1; CACNB4; GABRA1; EPM2A; NHLRC1; EPM2B; CSTB; PRICKLE1; CHRNA4; CHRNB2; CHRNA2; LGI1; MECP2; CDKL5; FOXG1; UBE3A; SLC9A6; TCF4; NRXN1; CNTNAP2; ZEB2; GAMT; GATM; PPT1; CLN1; TPP1; CLN2; CLN3; CLN5; CLN6; MFSD8; CLN7; CLN8; CTSD; CLN10; ADSL; SYN1; PNKP; benign familial neonatal seizures; generalized epilepsy with febrile seizures; juvenile myoclonic epilepsy; progressive myoclonic epilepsy; autosomal dominant focal epilepsies; Rett/atypical Rett syndromes; Angelman/Angelman-like/Pitt-Hopkins syndromes; Mowat-Wilson syndrome; creatine deficiency syndromes; neuronal ceroid lipofuscinoses; adenosuccinate lyase deficiency; epilepsy with variable learning and behavioral disorders; microcephaly with early onset intractable seizures and developmental delay", GeneDx | |
| 3001591 | Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication | Epilepsy | INFANT EPIL; SCN1A; PCDH19; SLC2A1; POLG; SCN2A; SCN1A; SCN1B; GABRG2; EFHC1; CACNB4; GABRA1; EPM2A; NHLRC1; EPM2B; CSTB; PRICKLE1; CHRNA4; CHRNB2; CHRNA2; LGI1; MECP2; CDKL5; FOXG1; UBE3A; SLC9A6; TCF4; NRXN1; CNTNAP2; ZEB2; GAMT; GATM; PPT1; CLN1; TPP1; CLN2; CLN3; CLN5; CLN6; MFSD8; CLN7; CLN8; CTSD; CLN10; ADSL; SYN1; PNKP; benign familial neonatal seizures; generalized epilepsy with febrile seizures; juvenile myoclonic epilepsy; progressive myoclonic epilepsy; autosomal dominant focal epilepsies; Rett/atypical Rett syndromes; Angelman/Angelman-like/Pitt-Hopkins syndromes; Mowat-Wilson syndrome; creatine deficiency syndromes; neuronal ceroid lipofuscinoses; adenosuccinate lyase deficiency; epilepsy with variable learning and behavioral disorders; microcephaly with early onset intractable seizures and developmental delay", GeneDx | |
| Erythrocytosis | ||||
| 3005721 | Hereditary Erythrocytosis Panel, Sequencing | Erythrocytosis | Erythrocytosis | |
| Exome | ||||
| 2006336 | Exome Sequencing, Proband | Exome | EXOSEQ PRO | |
| 2006332 | Exome Sequencing, Trio | Exome | EXOME SEQ | |
| 3001457 | Exome Reanalysis (Originally Test at ARUP - No Specimen Required) | Exome | ||
| Factor V Leiden | ||||
| 0030192 | APC Resistance Profile with Reflex to Factor V Leiden | Factor V Leiden | APC R, Venous thrombosis, Thromboembolism, Thrombophilia, clotting | |
| 0097720 | Factor V Leiden (F5) R506Q Mutation | Factor V Leiden | FACV, Venous thrombosis, Thromboembolism, Thrombophilia, clotting | |
| 2014248 | Factor V, R2 Mutation Detection by PCR | Factor V Leiden | F5 R2, Venous thrombosis, Thromboembolism, Thrombophilia, clotting, A4070G | |
| Factor XIII (F13A1) V34L Variant | ||||
| 2003220 | Factor XIII (F13A1) V34L Variant (assess thrombotic risk in Caucasians) | Factor XIII (F13A1) V34L Variant | FAC 13 MUT, Venous thrombosis, Thromboembolism, Thrombophilia, clotting | |
| Familial Adenomatous Polyposis | ||||
| 3004407 | APC- and MUTYH-Associated Polyposis Panel, Sequencing and Deletion/Duplication | Gastrointestinal Cancer | APC-Associated Polyposis, Attenuated FAP, Gardner Syndrome, Turcot Syndrome, MAP Sequencing, MYH-Associated Polyposis Sequencing, APCMYH NGS | |
| Familial HypercholesterolemiaAPOB, LDLR, LDLRAP1, PCSK9, FH, familial defective apoB, heterozygous familial hypercholesterolemia (HeFH), homozygous familial hypercholesterolemia (HoFH)/span> | ||||
| 3002110 | Familial Hypercholesterolemia Panel, Sequencing | APOB, LDLR, LDLRAP1, PCSK9, FH, familial defective apoB, heterozygous familial hypercholesterolemia (HeFH), homozygous familial hypercholesterolemia (HoFH) | ||
| Familial Mutation Testing | ||||
| 3005867 | Familial Targeted Sequencing | Familial Mutation Testing | SEQ FSM | |
| 3005869 | Familial Targeted Sequencing, Fetal | Familial Mutation Testing | SEQ FSM FE, Known mutation, family study, mutation specific testing, carrier detection, target analysis, familial mutation, family-specific mutation, prenatal, amnio, amniotic fluid, chorionic villi, CVS, cultured cells | |
| Familial Transthyretin Amyloidosis (TTR) | ||||
| 3004531 | Familial Transthyretin Amyloidosis (TTR) | Familial Transthyretin Amyloidosis (TTR) | ||
| Fatty Acid Oxidation Disorders | ||||
| 3001851 | Fatty Acid Oxidation Disorders Panel, Sequencing | List all applicable keywords below (include genes and associated diseases, if word is part of the test name, do not include): ACAD9, ACADM, ACADS, ACADVL, ACAT1, CPT1A, CPT2, ECHS1, ETFA, ETFB, ETFDH, FLAD1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD17B10, LPIN1, MLYCD, SLC22A5, SLC25A20, SLC52A1, SLC52A2, SLC52A3, ACAD9 deficiency, ACADM deficiency, ACADS deficiency, Acute Fatty Liver Pregnancy (AFLP), acute recurrent myoglobinuria, beta-ketothiolase deficiency, Brown-Vialetto-Van-Laere syndrome 1, Brown-Vialetto-Van-Laere syndrome 2, CACT deficiency, carnitine-acylcarnitine translocase deficiency, carnitine transport defect, carnitine uptake defect, congenital hyperinsulinism, CPT1A deficiency, CPT II deficiency, ECHS1 deficiency, familial hyperinsulinemic hypoglycemia, Fazio-Londe syndrome, flavin adenine dinucleotide synthetase deficiency, glutaric acidemia II, glutaric aciduria II, GAII, GA2, HADH deficiency, HMG-CoA lyase deficiency, HMG-CoA synthase-2 deficiency, HSD10 mitochondrial disease, HSD17B10 deficiency, Hypertension, Elevated Liver Enzymes, and Low Platelet (HELLP) syndromes, LCHAD deficiency, lipid storage myopathy, LPIN1 deficiency, MADD type I, MADD type II, MADD type III, MADD-like illness, malonyl-CoA decarboxylase deficiency, MAT deficiency, MCAD deficiency, mitochondrial complex I deficiency, mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, trifunctional protein deficiency, multiple acyl-CoA dehydrogenase deficiency, Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI), MLYCD deficiency, primary carnitine deficiency, riboflavin deficiency, riboflavin transporter deficiency 1, riboflavin transporter deficiency 2, riboflavin transporter deficiency 3, SCAD deficiency, systemic primary carnitine deficiency, T2 deficiency, VLCAD deficiency | ||
| 0051205 | Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations | Medium Chain Acyl-CoA Dehydrogenase (MCAD), MCADPCR, Medium-chain acyl-coa dehydrogenase, fatty acid oxidation, MCAD deficiency, ACADM | ||
| 3004419 | Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing and Deletion/Duplication | Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD), VLCAD FGA | ||
| Fragile X | ||||
| 2009033 | Fragile X (FMR1) with Reflex to Methylation Analysis | Fragile X | FRAG X PCR, Amenorrhea, Neurocognitive Impairment, mental retardation, X-linked, developmental delay, autism, PDD, ASD, premature ovarian failure, ataxia | |
| 2009034 | Fragile X (FMR1) with Reflex to Methylation Analysis, Fetal | Fragile X | FX PCR FE, known mutation, family study, mutation specific testing, target analysis, familial mutation, family-specific mutation, prenatal, amnio, amniotic fluid, chorionic villi, CVS, cultured cells, X-linked | |
| G6PD Deficiency | ||||
| 3004457 | Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing | G6PD Deficiency | G6PD AFRIC, Hemolytic Anemias | |
| 0051684 | Glucose-6-Phosphate Dehydrogenase (G6PD), DNA Mutation, African Alleles (A376G, G202A) | G6PD Deficiency | G6PD AFRIC, Hemolytic Anemias | |
| Galactosemia | ||||
| 0051175 | Galactosemia, (GALT) Enzyme Activity & 9 Mutations | Galactosemia | GALTPAN Galactosemia Classic Galactosemia Galactose-1-Phosphate Uridyltransferase Deficiency GALT Deficiency Duarte Variant Galactosemia GALT Galactose-1-phosphate uridylyltransferase | |
| 0051176 | Galactosemia, (GALT) 9 Mutations | Galactosemia | GALTDNA, Galactosemia | |
| 3004716 | Galactosemia (GALT) Sequencing and Deletion/Duplication | Galactosemia | GALT FGA, Galactosemia | |
| 0051270 | Galactosemia, (GALT ) 9 Mutations, Fetal | Galactosemia | GALTDNA FE, Galactosemia | |
| Gastrointestinal Cancer | ||||
| 3005963 | Hereditary Gastric Cancer Panel, Sequencing and Deletion/Duplication | Gastrointestinal Cancer | GICAN PAN, APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, colon, colorectal, cancer, gastrointestinal, stomach, GI cancer, polyp, FAP, polyposis, diffuse gastric, Lynch, HNPCC, MAP, Juvenile Polyposis, Peutz-Jeghers, Li-Fraumeni APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, diffuse gastric cancer, familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP) | |
| 3005697 | Hereditary Gastrointestinal Cancer High-Risk Panel, Sequencing and Deletion/Duplication | Gastrointestinal Cancer | GICAN PAN, APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, colon, colorectal, cancer, gastrointestinal, stomach, GI cancer, polyp, FAP, polyposis, diffuse gastric, Lynch, HNPCC, MAP, Juvenile Polyposis, Peutz-Jeghers, Li-Fraumeni APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, diffuse gastric cancer, familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP) | |
| 2013449 | Hereditary Gastrointestinal Cancer Panel, Sequencing and Deletion/Duplication | Gastrointestinal Cancer | GICAN PAN, APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, colon, colorectal, cancer, gastrointestinal, stomach, GI cancer, polyp, FAP, polyposis, diffuse gastric, Lynch, HNPCC, MAP, Juvenile Polyposis, Peutz-Jeghers, Li-Fraumeni APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, diffuse gastric cancer, familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP) | |
| 2012032 | Hereditary Cancer Panel, Sequencing and Deletion/Duplication | Gastrointestinal Cancer | CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel | |
| 3001605 | Lynch Syndrome Panel, Sequencing and Deletion/Duplication | MLH1, MSH2, MSH6, PMS2, EPCAM, Hereditary nonpolyposis colorectal cancer (HNPCC), Muir-Torre syndrome, Turcot syndrome, Constitutional Mismatch Repair Deficiency (CMMRD) | ||
| 3004407 | APC- and MUTYH-Associated Polyposis Panel, Sequencing and Deletion/Duplication | Gastrointestinal Cancer | APC-Associated Polyposis, Attenuated FAP, Gardner Syndrome, Turcot Syndrome, MAP Sequencing, MYH-Associated Polyposis Sequencing, APCMYH NGS | |
| Gaucher Disease | ||||
| 3001648 | Gaucher Disease (GBA) Sequencing | Gaucher Disease | Glucocerebrosidase Deficiency, Glucosylceramidase Deficiency | |
| 0051438 | Gaucher Disease (GBA), 8 Variants | Gaucher Disease | GBA, Jewish Genetic, Glucocerebrosidase, Glucosylceramidase | |
| Genome | ||||
| 3005928 | Rapid Whole Genome Sequencing, Familial Control | Genome | ||
| 3005933 | Rapid Whole Genome Sequencing, Familial Control with Report | Genome | ||
| 3005935 | Rapid Whole Genome Sequencing | Genome | ||
| 3005939 | Rapid Whole Genome Reanalysis | Genome | ||
| Hearing Loss | ||||
| 3004720 | Connexin 26 (GJB2) Sequencing and Deletion/Duplication | Hearing Loss | CX26SEQ, Hearing Loss | |
| 2001956 | Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions | Hearing Loss | GJB6 DEL, Hearing Loss | |
| Hemoglobinopathies | ||||
| 2005792 | Hemoglobin Evaluation Reflexive Cascade | Hemoglobinopathies | HB CASCADE | |
| 3000894 | Hereditary Hemolytic Anemia Cascade | Hemoglobinopathies, HHACASCADE | ||
| 3004547 | Beta Globin (HBB) Gene Sequencing | Hemoglobinopathies | ||
| 3003144 | Deletion/Duplication Analysis by MLPA | ABCD1, ACADVL, ACVRL1, APC, ATP7A, BMPR1A, BRCA1, BRCA2, CFTR, COL4A5, ENG, F8, F9, FBN1, HBB, MECP2, MEN1, MLH1, MSH2, MSH6, NF1, OTC, PKD1, PKD2, PLOD1, PMS2, PRSS1, PTEN, RASA1, SDHB, SDHC, SDHD, SLC22A5, SHOX, SMAD4, SPINK1, SPRED1, STK11, TP53, VHL | ||
| 3004550 | Beta Globin (HBB) Sequencing, Fetal | Beta Globin | BG SEQ FE | |
| 2011708 | Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication | Alpha Thalassemia, AG FGA, Hemoglobinopathies | ||
| 3003651 | Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring | HBA DDCS, A globin, Alpha globin gene analysis, Alpha globin mutations | ||
| 2011622 | Alpha Globin (HBA1 and HBA2) Deletion/Duplication | Hemoglobinopathies | HBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin | |
| 3003656 | Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring, Fetal | HBA DDCSFE, A globin, Alpha globin gene analysis, Alpha globin mutations | ||
| 3001957 | Gamma Globin (HBG1 and HBG2) Sequencing | Hemoglobinopathies | A-gamma, G-gamma | |
| Hemophilia | ||||
| 3004232 | Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication | Hemophilias | F8-COMP, hemophilia A molecular cascade; severe hemophilia A comprehensive reflex panel; hemophilia A reflex panel; hemophilia A mutation evaluation; hemophilia A carrier screening; hemophilia A carrier status, DNA analysis for hemophilia A; DNA analysis for F8 deficiency, factor VIII genetic analysis | |
| 2001759 | Hemophilia A (F8) 2 Inversions | Hemophilias | F8 INV, Factor VIII, Factor 8, bleeding, classic hemophilia | |
| 3004241 | Hemophilia A (F8) Sequencing | Hemophilias | F8 NGS, F8 deficiency sequencing, factor VIII deficiency sequencing | |
| 2001755 | Hemophilia A (F8) 2 Inversions, Fetal | Hemophilias | F8 INV FE, Factor VIII, Factor 8, bleeding, classic hemophilia | |
| Hereditary Hemochromatosis | ||||
| 0055656 | Hereditary Hemochromatosis Mutation Detection (C282Y, H63D, & S65C) | Hereditary Hemochromatosis | HFE PCR, HFE-associated hemochromatosis, HFE-HHC, iron overload | |
| Hereditary Hemolytic Anemia | ||||
| 2012052 | Hereditary Hemolytic Anemia Panel, Sequencing | Hereditary Hemolytic Anemia | HHA SEQ, CANCER DD, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-JegherHHA SEQ, RBC membrane defects; RBC enzymopathies; Hereditary spherocytosis; Hereditary elliptocytosis; Hereditary pyropoikilocytosis; Dehydrated hereditary stomatocytosis; Xerocytosis, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer | |
| Hereditary Hemorrhagic Telangiectasia (HHT) | ||||
| 2009337 | Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication | Hereditary Hemorrhagic Telangiectasia (HHT) | HHT PANEL, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4 | |
| 2007384 | Vascular Malformations Panel, Sequencing and Deletion/Duplication, 10 Genes | Hereditary Hemorrhagic Telangiectasia (HHT) | VACS PANEL, RASA1, ENG, ACVRL1/ALK1, SMAD4, PTEN, TIE2/TEK, GLMN, KRIT1/CCM1, CCM2, CCM3, capillary malformation, telangiectasia, arteriovenous malformation, AVM, HHT, hereditary hemorrhagic telangiectasia, Parkes Weber, CM-AVM, Multiple cutaneous and mucosal, VMCM, Proteus, PS, cavernous, venous, glomuvenous, GVM | |
| Hereditary Myeloid NeoplasmsMyelodysplastic syndrome (MDS), Acute myeloid leukemia (AML) | ||||
| 3001842 | Hereditary Myeloid Neoplasms Panel, Sequencing | Myelodysplastic syndrome (MDS), Acute myeloid leukemia (AML) | ||
| Hereditary Paraganglioma-Pheochromocytoma Syndromes | ||||
| 3005912 | Hereditary Paraganglioma-Pheochromocytoma Expanded Panel, Sequencing and Deletion/Duplication | |||
| 3004480 | Hereditary Paraganglioma-Pheochromocytoma (SDHA, SDHB, SDHC, and SDHD) Panel, Sequencing and Deletion/Duplication | Hereditary Paraganglioma-Pheochromocytoma Syndromes | Adrenal cortical adenoma; adrenal medulla tumor; Carney-Stratakis syndrome; carotid body tumors and multiple extra-adrenal pheochromocytomas; esophageal leiomyoma; gastrointestinal stromal tumor; GIST; hereditary paraganglioma-pheochromocytoma; HNPGL; jugulotympanic paraganglioma; mitochondrial complex II deficiency, nuclear type 1; mitochondrial complex II deficiency, nuclear type 3; mitochondrial complex II deficiency, nuclear type 4; neuroendocrine tumor; papillary thyroid carcinoma; paraganglioma; paragangliomas 1; paragangliomas 3; paragangliomas 4; paragangliomas 5; paraganglioma and gastric stromal sarcoma; PCC; PGL; PGL/PCC; pituitary adenoma; pulmonary chondroma; renal clear cell carcinoma; succinate dehydrogenase; succinate dehydrogenase, subunit A; succinate dehydrogenase, subunit B; succinate dehydrogenase, subunit C; succinate dehydrogenase, subunit D; vagal paraganglioma | |
| Heterotaxy/Situs InversusARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DRC1, GAS8, LRRC6, MCIDAS, NME8, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10, Kartagener syndrome | ||||
| 3002682 | Heterotaxy and Situs Inversus Panel, Sequencing | Kartagener syndrome, primary ciliary dyskinesia, situs inversus totalis, situs ambiguous, situs ambiguus | ||
| 3001621 | Primary Ciliary Dyskinesia Panel, Sequencing | ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DRC1, GAS8, LRRC6, MCIDAS, NME8, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10, Kartagener syndrome | ||
| HLA-B Pharmacogenetic Testing | ||||
| 2012049 | HLA-B*15:02 Genotyping, Carbamazepine Hypersensitivity | HLA-B*15:02 (Carbamazepine Hypersensitivity) Genotyping, pharmacogenetics, PGX | ||
| 2002429 | HLA-B*5701 Associated Variant Genotyping for Abacavir Sensitivity | HLA-B*5701 (Abacavir Sensitivity) Genotyping, HLA-B5701, Pharmacogenetics (PGx), HIV Drug Resistance, HIV, Abacavir sensitivity, Ziagene, Abacavir hypersensitivity, ABC HSR | ||
| 3001393 | HLA-B*58:01 Genotyping, Allopurinol Hypersensitivity | HLA-B*58:01 (Allopurinol Hypersensitivity) Genotyping, pharmacogenetics, PGX | ||
| HLA-B27 (Ankylosing Spondylitis) Genotyping | ||||
| 0050392 | Ankylosing Spondylitis (HLA-B27) Genotyping | HLA-B27 (Ankylosing Spondylitis) Genotyping | HLAB27 PCR, IBD | |
| Holoprosencephaly | ||||
| 2008848 | Holoprosencephaly Panel, Sequencing and Deletion/Duplication | Holoprosencephaly | HPE PAN, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2 | |
| 2008863 | Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal | Holoprosencephaly | HPE PAN FE, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2 | |
| Huntington Disease | ||||
| 3016908 | Huntington Disease (HD) CAG Repeat Expansion | Huntington Disease | HD, Huntington chorea, CAG trinucleotide repeats, HTT | |
| Kell Antigen Genotyping | ||||
| 3002001 | Kell K/k Antigen (KEL) Genotyping | Kell Antigen Genotyping | KEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano | |
| Loeys-Dietz Syndrome | ||||
| 3003947 | Loeys-Dietz Syndrome Core Panel, Sequencing | Loeys-Dietz Syndrome | LDS FGS, Loeys-Dietz, aortic aneurysm | |
| Lynch Syndrome | ||||
| 3001605 | Lynch Syndrome Panel, Sequencing and Deletion/Duplication | MLH1, MSH2, MSH6, PMS2, EPCAM, Hereditary nonpolyposis colorectal cancer (HNPCC), Muir-Torre syndrome, Turcot syndrome, Constitutional Mismatch Repair Deficiency (CMMRD) | ||
| Malignant Hyperthermia SusceptibilityCACNA1S, RYR1, Malignant hyperthermia susceptibility (MHS), malignant hyperpyrexia | ||||
| 3002688 | Malignant Hyperthermia Panel, Sequencing | CACNA1S, RYR1, Malignant hyperthermia susceptibility (MHS), malignant hyperpyrexia | ||
| Methylenetetrahydrofolate Reductase (MTHFR) | ||||
| 0055655 | Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations | Methylenetetrahydrofolate Reductase (MTHFR) | MTHFR PCR, Thrombophilia, methotrexate sensitivity, cardiovascular, C677T, A1298C | |
| Microsatellite Instability (MSI) | ||||
| 0049302 | Mismatch Repair by Immunohistochemistry | Microsatellite Instability (MSI) | MSI, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch | |
| 0051740 | Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR | Microsatellite Instability (MSI) | MSI PCR, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers, MSI, MLH1, MSH2, MSH6, PMS2, mismatch repair | |
| 2005270 | Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation | Microsatellite Instability (MSI) | MSI MLH1, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch | |
| MODY and Neonatal Diabetes | ||||
| 3001593 | MODY and Neonatal Diabetes Panel, Sequencing | ABCC8, Diabetes mellitus, permanent neonatal 3, with or without neurologic features, Diabetes mellitus, transient neonatal 2, Hyperinsulinemic hypoglycemia, familial, 1, Hypoglycemia of infancy, leucine sensitive, APPL1, BLK, CEL, EIF2AK3, Wolcott-Rallison syndrome, FOXP3, Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, GATA4, GATA6, Pancreatic agenesis and congenital heart defects, GCK, NIDDM, late onset, Hyperinsulinemic hypoglycemia, familial, 3, Diabetes mellitus, permanent neonatal 1, HNF1A, NIDDM 2, IDDM 20, HNF1B, NIDDM, Renal cysts and diabetes syndrome, HNF4A, NIDDM, Fanconi renotubular syndrome 4, with MODY, INS, IDDM2, Diabetes mellitus, permanent neonatal, Hyperproinsulinemia, KCNJ11, Diabetes mellitus, transient neonatal, 3, Diabetes, permanent neonatal 2, with or without neurologic features, Hyperinsulinemic hypoglycemia, familial 2, KLF11, NEUROD1, NEUROG3, Diarrhea 4, malabsorptive, congenital, PAX4, Diabetes mellitus, type 2, PDX1, Pancreatic agenesis 1, RFX6, Mitchell-Riley syndrome, SLC19A2, Thiamine-responsive megaloblastic anemia syndrome, WFS1, NIDDM, Wolfram-like syndrome, AD, Wolfram syndrome 1, ZFP57, Diabetes mellitus, transient neonatal, 1 | ||
| 0051448 | Mucolipidosis Type IV (MCOLN1), 2 Variants | Mucolipidosis IV | MCOLN1, Jewish Genetic, lysosomal | |
| Multiple Endocrine Neoplasia | ||||
| 3004437 | Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication | Multiple Endocrine Neoplasia Type 1 (MEN1) | MEN1 FGA, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN) | |
| 3004572 | Multiple Endocrine Neoplasia Type 2 (MEN2), RET Sequencing | Multiple Endocrine Neoplasia Type 2 (MEN2) | MEN2 SEQ, Thyroid Cancer, Pheochromocytoma, Multiple Endocrine Neoplasias (MEN), MEN 2A, MEN 2B, familial medullary thyroid carcinoma, FMTC, RET proto-oncogene | |
| Muscular Dystrophy | ||||
| 2011241 | Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication with Reflex to Sequencing | Muscular Dystrophy | DMD REFLEX, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD | |
| 2011235 | Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication | Muscular Dystrophy | DMD DD, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD | |
| 2011153 | Duchenne/Becker Muscular Dystrophy (DMD) Sequencing | Muscular Dystrophy | DMD SEQ, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD | |
| 2011231 | Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication, Fetal | Muscular Dystrophy | DMD DD FE, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD | |
| 3001839 | Emery-Dreifuss Muscular Dystrophy Panel, Sequencing | EMD, FHL1, LMNA, EDMD1, EDMD2, EDMD3, EDMD6 | ||
| 3001907 | Myotonic Dystrophy Type 1 (DMPK) CTG Expansion | Muscular Dystrophy | ||
| Narcolepsy | ||||
| 2005023 | Narcolepsy (HLA-DQB1*06:02) Genotyping | Narcolepsy | NARCOLEPSY, Narcolepsy, HLA-DQB1, sleep | |
| Neurofibromatosis Type 1 and Legius SyndromeNeurofibromatosis Type 1 and Legius Syndrome | ||||
| 3003927 | Neurofibromatosis Type 1 and Legius Syndrome Panel, Sequencing and Deletion/Duplication | NF1, SPRED1, Von Recklinghausen Disease | ||
| Non-Alcoholic Fatty Liver Disease | ||||
| 2014599 | Non-Alcoholic Fatty Liver Disease Susceptibility (PNPLA3) Genotyping |
| Non-Alcoholic Fatty Liver Disease | hepatic steatosis genotyping |
| Non-Invasive Prenatal Aneuploidy Screen (Cell-Free DNA) | ||||
| 3003043 | Non-Invasive Prenatal Aneuploidy Screen by cell-free DNA Sequencing | Non-Invasive Prenatal Aneuploidy Screen (Cell-Free DNA) | 45,x, aneuploidy, aneuploidy screening, cell-free, cellfree, cfDNA, cfDNA screening, cffDNA, chromosome abnormality, Down syndrome, Edward syndrome, fetal fraction, Klinfelter syndrome, monosomy X, NIPD, NIPS, NIPT, NIPT blood test, NIPT testing, NIPTFE, non-invasive prenatal screening, non-invasive prenatal testing, noninvasive prenatal screening, noninvasive prenatal testing, Patau syndrome, prenatal aneuploidy screening, prenatal screening, sex chromosome aneuploidy, T13, T18, T21, triple X syndrome, trisomy 13, trisomy 18, trisomy 21, Turner syndrome, XXX, XXY, XYY | |
| Noonan Syndrome | ||||
| 2010769 | Noonan Spectrum Disorders Panel, Sequencing, Fetal | Noonan Syndrome | NOONAN FE, BRAF, CBL, HRAS, KAT6B, KRAS, MAP2K1/MEK1, MAP2K2/MEK2, NRAS, PTPN11, RAB20AL, RAF, RIT1, SHOC2, SOS1, SPRED1, Noonan Syndrome, Cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, LEOPARD syndrome, Noonan-like syndrome with loose anagen hair | |
| Opioid Receptor, Mu | ||||
| 2008767 | Opioid Receptor, Mu (OPRM1) Genotype, 1 Variant | Opioid Receptor, Mu | OPRM1, opioid receptor, mu, mu receptor, naltrexone, opioid dependency, alcoholism | |
| Osteogenesis Imperfecta | ||||
| 3001607 | Osteogenesis Imperfecta and Low Bone Density Panel, Sequencing | ALPL, Hypophosphatasia, ANO5, Gnathodiaphyseal dysplasia, BMP1, OI, type XIII, CASR, Hyperparathyroidism, neonatal severe, CLCN5, Hypophosphatemic rickets, Dent disease 1, COL1A1, Caffey disease, OI types I, II, III, and IV, Ehlers-Danlos syndrome, Arthrochalasia type 1 , COL1A2, Ehlers-Danlos syndrome, Arthrochalasia type 2, CREB3L1, OI, type XVI, CRTAP, OI, type VII, CYP27B1, Vitamin D hydroxylation, FKBP10, Bruck syndrome 1, OI, type XI, GORAB, Geroderma osteodysplasticum, IFITM5, OI, type V, LRP5, Endosteal hyperostosis, Van Buchem disease, type 2, Osteoporosis-pseudoglioma syndrome, Exudative vitreoretinopathy 4, P3H1, OI, type VIII, P4HB, Cole-Carpenter syndrome 1, PLOD2, Bruck syndrome 2, PLS3, PPIB, OI, type IX, SEC24D, Cole-Carpenter syndrome 2, SERPINF1, OI, type VI, SERPINH1, OI, type X, SLC34A3, Hypophosphatemic rickets with hypercalciuria, hereditary, SP7, OI, type XII, SPARC, OI, type XVII, TMEM38B, OI, type XIV, WNT1, OI, type XV | ||
| Ovarian Cancer | ||||
| 2012026 | Hereditary Breast and Gynecological Cancers Panel, Sequencing and Deletion/Duplication | Ovarian Cancer | BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 | |
| 3001855 | BRCA1 and BRCA2-Associated HBOC Syndrome Panel, Sequencing and Deletion/Duplication | Ovarian Cancer | BRCA FGA, BRACA, HBOC | |
| Pancreatic Cancer | ||||
| 3005708 | Hereditary Pancreatic Cancer Panel, Sequencing and Deletion/Duplication | Pancreatic Cancer | ||
| Pancreatitis | ||||
| 3004788 | Pancreatitis, Panel (CFTR, CTRC, PRSS1, SPINK1) Sequencing | Pancreatitis | ||
| Periodic Fever Syndromes | ||||
| 2007370 | Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication | Periodic Fever Syndromes | PRFEVERPAN, MEFV, MVK, LPIN2, TNFRSF1A, NLRP3, CIAS1, ELANE, ELA2, PSTPIP1, pyrin, mevalonate kinase, lipin-2, tumor necrosis factor receptor 1, cryopyrin, neutrophil elastase, proline-serine-threonine phosphatase-interacting protein 1, CD2-binding protein 1, Familial Mediterranean Fever, FMF, Hyperimmunoglobulinemia D syndrome, HIDS, Majeed Syndrome, TRAPS, Familial Cold Autoinflammatory Syndrome, FCAS, Muckle-Wells Syndrome, neonatal onset multisystem inflammatory disease, NOMID, chronic infantile neurological cutaneous and articular syndrome, CINCA, Severe Congenital Neutropenia, Cyclic Neutropenia, Kostmann syndrome, genetic infantile agranulocytosis, Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, Acne, PAPA ELANE/ELA2, LPIN2, MEFV, MVK, NLRP3/CIAS1, PSTPIP1, TNFRSF1A, chronic infantile neurological cutaneous and articular syndrome (CINCA), Cyclic Neutropenia, Familial Cold Autoinflammatory Syndrome (FCAS), Familial Mediterranean Fever (FMF), Hyperimmunoglobulinemia D syndrome (HIDS), Majeed Syndrome, Muckle-Wells Syndrome, neonatal onset multisystem inflammatory disease (NOMID), Severe Congenital Neutropenia, [Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, Acne, (PAPA)], Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) | |
| 3004434 | Familial Mediterranean Fever (MEFV) Sequencing | Periodic Fever Syndromes | FMF FGS, DNA | |
| Peroxisomal DisordersPeroxisomal Disorders, ABCD3, ACBD5, ACOX1, AGPS, AGXT, AMACR, DNM1L, FAR1, GNPAT, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2 Zellweger spectrum disorder, Zellweger syndrome, Refsum disease, infantile Refsum disease, rhizomelic chondrodysplasia punctata, peroxisomal acyl-CoA oxidase deficiency, hyperoxaluria, Heimler syndrome, Mitchell syndrome, defects of bile acid synthesis, congenital bile acid synthesis defect, primary hyperoxaluria, Perrault syndrome, bifunctional enzyme deficiency, PEX, RCDP | ||||
| 3002700 | Peroxisomal Disorders Panel, Sequencing | Peroxisomal Disorders | ABCD3, ACBD5, ACOX1, AGPS, AGXT, AMACR, DNM1L, FAR1, GNPAT, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2 Zellweger spectrum disorder, Zellweger syndrome, Refsum disease, infantile Refsum disease, rhizomelic chondrodysplasia punctata, peroxisomal acyl-CoA oxidase deficiency, hyperoxaluria, Heimler syndrome, Mitchell syndrome, defects of bile acid synthesis, congenital bile acid synthesis defect, primary hyperoxaluria, Perrault syndrome, bifunctional enzyme deficiency, PEX, RCDP | |
| Pharmacogenetics Panels | ||||
| 3006366 | Pharmacogenetics Panel: Psychotropics, with GeneDose Access | Pharmacogenetics | Pharmacogenetics | |
| Plasminogen Activator Inhibitor-1 | ||||
| 2004980 | Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping | Plasminogen Activator Inhibitor-1 | PAI-1 GENO, Fibrinolytic, thrombosis-associated PAI-1 activity, serpin peptidase inhibitor, 4G/4G, 4G/5G, thrombotic risk | |
| Platelet Antigen Genotyping | ||||
| 3000193 | Platelet Antigen Genotyping Panel | Platelet Antigen Genotyping | HPA PAN, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT | |
| 3016673 | Platelet Antigen Genotyping Panel, Fetal | Platelet Antigen Genotyping | HPA PAN, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT | |
| Prader-Willi Syndrome | ||||
| 3006247 | Angelman Syndrome and Prader-Willi Syndrome by Methylation-Specific MLPA | Angelman Syndrome, AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments, UBE3A | ||
| Primary Antibody Deficiency | ||||
| 2011156 | Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication | Primary Antibody Deficiency | PAD PANEL, ADA, AICDA, ATM, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, ICOS, IGHM, IGLL1, IKBKG, LRBA, LRRC8A, MRE11A, MS4A1, NBN/NBS1, NFKB2, NFKBIA, PIK3CD, PIK3R1, PLCG2, PRKCD, PTPRC, RAG2, SH2D1A, TNFRSF13B, TNFRSF13C, UNG, VAV1, XIAP/BIRC4, CVID, common variable immunodeficiency, common variable immune deficiency, common variable hypogammaglobulinemia, IgA deficiency, selective IgA deficiency, selective IgM deficiency, IgG deficiency, IgG subclass deficiency, hypogammaglobulinemia, agammaglobulinemia, panhypogammaglobulinemia, Hyper-IgM syndrome, HIGM syndrome, HIGM1, HIGM2, HIGM3, HIGM4, HIGM5, immunoglobulin class-switch deficiency, selective antibody deficiency, anti-polysaccharide antibody deficiency, late-onset combined immunodeficiency, late-onset immunoglobulin deficiency, B cell deficiency | |
| Prostate Cancer | ||||
| 3005686 | Hereditary Prostate Cancer Panel, Sequencing and Deletion/Duplication | Prostate Cancer | Prostate Cancer | |
| Prothrombin (Factor II) | ||||
| 0056060 | Prothrombin Nucleotide 20210 G/A Gene Mutation (Factor II) | Prothrombin (Factor II) | PT PCR, F2, G20210A, thrombosis, plasma prothrombin, thrombophilia, clotting | |
| Pulmonary Arterial Hypertension (PAH) | ||||
| 2009345 | Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication | Pulmonary Arterial Hypertension (PAH) | PAH PANEL, ACVRL1/ALK1, BMPR2, CAV1, ENG, KCNK3, EIF2AK4 | |
| Renal Cancer | ||||
| 2010214 | Hereditary Renal Cancer Panel, Sequencing and Deletion/Duplication | Renal Cancer | RENCAPAN, RENCAPAN, renal, cancer, BAP1, FH, FLCN, MET, MLH1, MSH2, MSH6, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, leiomyomatosis, Mesothelioma, birt-hogg-dube, HNPCC, lynch, Cowden, Bannayan-Riley-Ruvalcaba, Proteus, Li-Fraumeni, Tuberous sclerosis, Von Hippel BAP1, FH, FLCN, MET, MLH1, MSH2, MSH6, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, Birt-Hogg-Dube, leiomyomatosis, mesothelioma, tuberous sclerosis (TS), von Hippel-Lindau | |
| 2012032 | Hereditary Cancer Panel, Sequencing and Deletion/Duplication | Renal Cancer | CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel | |
| Retinoblastoma | ||||
| 3005696 | Hereditary Retinoblastoma (RB1) Sequencing and Deletion/Duplication | Retinoblastoma | Retinoblastoma | |
| Rett Syndrome | ||||
| 3003144 | Deletion/Duplication Analysis by MLPA | ABCD1, ACADVL, ACVRL1, APC, ATP7A, BMPR1A, BRCA1, BRCA2, CFTR, COL4A5, ENG, F8, F9, FBN1, HBB, MECP2, MEN1, MLH1, MSH2, MSH6, NF1, OTC, PKD1, PKD2, PLOD1, PMS2, PRSS1, PTEN, RASA1, SDHB, SDHC, SDHD, SLC22A5, SHOX, SMAD4, SPINK1, SPRED1, STK11, TP53, VHL | ||
| Rh Genotyping | ||||
| 0051368 | Rh Genotyping D Antigen (RhD positive/negative and RhD copy number) | Rh Genotyping | RHD, Hemolytic Disease of the Newborn, fetal erythroblastosis, isoimmunization, alloimmune hemolytic | |
| 3002002 | RhC/c (RHCE) Antigen Genotyping | Rh Genotyping | RH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility | |
| 3002003 | RhE/e (RHCE) Antigen Genotyping | Rh Genotyping | RH E, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility | |
| Schwachman-Diamond Syndrome | ||||
| 2006240 | Schwachman-Diamond Syndrome (SBDS) Sequencing | Schwachman-Diamond Syndrome | SBDS FGS, GeneDx | |
| SHOX Deficiency Disorders | ||||
| 3004603 | SHOX Deficiency Disorders, Sequencing and Deletion/Duplication | SHOX Deficiency Disorders | ||
| 3003144 | Deletion/Duplication Analysis by MLPA | ABCD1, ACADVL, ACVRL1, APC, ATP7A, BMPR1A, BRCA1, BRCA2, CFTR, COL4A5, ENG, F8, F9, FBN1, HBB, MECP2, MEN1, MLH1, MSH2, MSH6, NF1, OTC, PKD1, PKD2, PLOD1, PMS2, PRSS1, PTEN, RASA1, SDHB, SDHC, SDHD, SLC22A5, SHOX, SMAD4, SPINK1, SPRED1, STK11, TP53, VHL | ||
| Skeletal Dysplasia | ||||
| 2012010 | Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal | Skeletal Dysplasia | SKEL FE, chondrodysplasia, osteogenesis imperfecta, achondrogenesis, hypophosphatasia, Kniest, pseudoachondroplasia, spondylocostal sysostosis, short rib thoracic dystrophy, short rib polydactaly, Ellis van Crevald, achondroplasia, frontometaphyseal dysplasia, atelosteogenesis, dyssegmental dysplasia, Sliverman-Handmaker, Schwartz-Jampel, Asphyxiatic thoracic dystrophy, Greenburg dysplasia, Stuve-Wiedeman, Antely Bixler, cleidocranial dysplasia, diastrophic dysplasia, metaphyseal dysplasia, schneckenbecken, metrotrophic dysplasia, cranioectodermal dysplasia, sensenbrenner, Jeune, AGPS, ALPL, ARSE, COL1A1, COL1A2, COL2A1, COMP, CRTAP, DLL3, DYNC2H1, EBP, EVC, EVC2, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GNPAT, HSPG2, IFT80, LBR, LIFR, NEK1, P3H1, PEX7, POR, PPIB, RUNX2, SERPINH1, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4, TTC21B, WDR19, WDR35 | |
| 2012015 | Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication | Skeletal Dysplasia | SKEL PANEL, chondrodysplasia, osteogenesis imperfecta, achondrogenesis, hypophosphatasia, Kniest, pseudoachondroplasia, spondylocostal sysostosis, short rib thoracic dystrophy, short rib polydactaly, Ellis van Crevald, achondroplasia, frontometaphyseal dysplasia, atelosteogenesis, dyssegmental dysplasia, Sliverman-Handmaker, Schwartz-Jampel, Asphyxiatic thoracic dystrophy, Greenburg dysplasia, Stuve-Wiedeman, Antely Bixler, cleidocranial dysplasia, diastrophic dysplasia, metaphyseal dysplasia, schneckenbecken, metrotrophic dysplasia, cranioectodermal dysplasia, sensenbrenner, Jeune, AGPS, ALPL, ARSE, COL1A1, COL1A2, COL2A1, COMP, CRTAP, DLL3, DYNC2H1, EBP, EVC, EVC2, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GNPAT, HSPG2, IFT80, LBR, LIFR, NEK1, PEX7, POR, PPIB, RUNX2, SERPINH1, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4, TTC21B, WDR19, WDR35 | |
| Skin Cancer | ||||
| 3002673 | Hereditary Melanoma Panel, Sequencing and Deletion/Duplication | |||
| 2012032 | Hereditary Cancer Panel, Sequencing and Deletion/Duplication | Skin Cancer | CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel | |
| Spinal Muscular Atrophy (SMA) | ||||
| 2013436 | Spinal Muscular Atrophy (SMA) Copy Number Analysis | Spinal Muscular Atrophy (SMA) | SMA DD | |
| 2013444 | Spinal Muscular Atrophy (SMA) Copy Number Analysis, Fetal | Spinal Muscular Atrophy (SMA) | SMA DD FE | |
| Statin Sensitivity | ||||
| 2008426 | SLCO1B1, 1 Variant | Statin Sensitivity | SLCO1B1, stimvastatin, Solute Carrier Organic Anion Transporter Family Member 1B1, rs4149056C, SLCO1B1*5, OATP1B1, organic anion-transporter polypeptide 1B1 | |
| Stickler Syndrome | ||||
| 3001613 | Stickler Syndrome Panel, Sequencing | achondrogenesis,fibrochondrogenesis,Kneist dysplasia,Legg-Calve-Perthes disease, Marshall syndrome,multiple epiphyseal dysplasia,otospondylomegaepiphyseal dysplasia,platyspondylic lethal skeletal dysplasia,spondyloepiphyseal dysplasia,spondyloperipheral dysplasia, type II collagenopathy,Wagner vitreoretinopathy,COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, VCAN | ||
| Tay-Sachs Disease | ||||
| 3004486 | Tay-Sachs Disease (HEXA) Sequencing and Deletion/Duplication | Tay-Sachs Disease | Thexosaminidase A, beta-hexosaminidase A, GM2 gangliosidosis | |
| 0051428 | Tay-Sachs Disease (HEXA), 7 Variants | Tay-Sachs Disease | HEXA, Jewish Genetic, Hex A, GM2 gangliosidosis, hexosaminidase, lysosomal storage, delta 7.6kb, IVS9(+1)G>A, 1278insTATC, IVS12(+1)G>C, G269S, R247W, R249W | |
| Thanatophoric Dysplasia | ||||
| 0051506 | Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations | Thanatophoric Dysplasia | TD PAN, Skeletal Dysplasias, thanatophoric dysplasia, TD1, TD2, R248C, S249C, G370C, S371C, Y373C, K650E, X807G, X807R, X807S, X807L, X807C, X807W, dwarfism | |
| 0051508 | Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations, Fetal | Thanatophoric Dysplasia | TD PAN FE, Skeletal Dysplasias, thanatophoric dysplasia, TD1, TD2, R248C, S249C, G370C, S371C, Y373C, K650E, X807G, X807R, X807S, X807L, X807C, X807W, dwarfism | |
| Thrombotic Risk | ||||
| 0030133 | Thrombotic Risk, Inherited Etiologies (Most Common) with Reflex to Factor V Leiden | Thrombotic Risk | THROM COM, Venous thrombosis, Thromboembolism, Thrombophilia, Factor V Leiden, F5, R506Q, F2, G20210A, thrombosis, plasma prothrombin, clotting | |
| 0056200 | Thrombotic Risk, DNA Panel (FVL, Factor II, MTHFR) | Thrombotic Risk | THROMDNA, Thrombophilia, cardiovascular, C677T, A1298C, F2, G20210A, thrombosis, plasma prothrombin, Factor V Leiden, F5, R506Q, methylenetetrahydrofolate reductase, venous thrombosis, thromboembolism, clotting | |
| Thyroid Cancer | ||||
| 3005944 | Hereditary Thyroid Cancer Panel, Sequencing and Deletion/Duplication | |||
| Twin Zygosity Testing | ||||
| 3016875 | Twin Zygosity | Twin Zygosity Testing | TWIN ZYG, Fetal zygosity, mono/dizygotic differentiation | |
| UGT1A1 Gene Analysis | ||||
| 3004386 | UGT1A1 Sequencing | UGT1A1 Gene Analysis | Crigler-Najjar type 1 (CN1), Crigler-Najjar type 2 (CN2) | |
| 0051332 | UDP Glucuronosyltransferase 1A1 (UGT1A1) Genotyping | UGT1A1 Gene Analysis | UGT1A1, Irinotecan, Pharmacogenetics (PGx), Colorectal Cancer | |
| Vascular Malformation Syndromes | ||||
| 2007384 | Vascular Malformations Panel, Sequencing and Deletion/Duplication | Vascular Malformation Syndromes | VACS PANEL, RASA1, ENG, ACVRL1/ALK1, SMAD4, PTEN, TIE2/TEK, GLMN, KRIT1/CCM1, CCM2, CCM3, capillary malformation, telangiectasia, arteriovenous malformation, AVM, HHT, hereditary hemorrhagic telangiectasia, Parkes Weber, CM-AVM, Multiple cutaneous and mucosal, VMCM, Proteus, PS, cavernous, venous, glomuvenous, GVM ACVRL1/ALK1, BMP9/GDF2, BMPR2, CAV1, CCM1/KRIT1, CCM2, CCM3/PDCD10, ENG, GLMN, KCNK3, PTEN, RASA1, SMAD4, TEK/TIE2, CM-AVM, Parkes Weber syndrome (PKWS), Proteus (PS) | |
| —see Cerebral Cavernous Malformation (CCM) | Vascular Malformation Syndromes | |||
| —see Hereditary Hemorrhagic Telangiectasia (HHT) | Vascular Malformation Syndromes | |||
| 2009337 | Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication | Vascular Malformation Syndromes | HHT PANEL, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4 | |
| 3003634 | Capillary Malformation-Arteriovenous Malformation (CM-AVM) Panel, Sequencing and Deletion/Duplication | RASA1-Related Disorders, RASA1 FGA, RASA1, CM-AVM, Parkes Weber | ||
| Von Willebrand Disease | ||||
| 3004379 | von Willebrand Disease(VWF) Sequencing | Von Willebrand Disease | VWF2A, VWF2N, VWF2M, VWF2B, Type 2A, Type 2N, Type 2M, Type 2B, VWD, VWD2A, VWD2N, VWD2M, VWD2B, VWF NGS | |
| Warfarin Genotyping | ||||
| 3001541 | Warfarin Sensitivity (CYP2C9, CYP2C cluster, CYP4F2, VKORC1) Genotyping | Warfarin | Warfarin Genotyping, warfarin, Coumadin, pharmacogenetics, PGX | |
| Wilson Disease | ||||
| 3004411 | Wilson Disease (ATP7B) Sequencing | Wilson Disease | ||
| X-Chromosome Inactivation | ||||
| 2006352 | X-Chromosome Inactivation Analysis | X-Chromosome Inactivation | XCI | |
| Y Chromosome Microdeletion | ||||
| 2001778 | Y Chromosome Microdeletion | Y Chromosome Microdeletion | Y CHROM, Male Infertility, PCR | |
