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Test #Test NameAdditional InformationSpecialtyTest Keywords
5-Fluorouracil Sensitivity
2012166Dihydropyrimidine Dehydrogenase (DPYD) Genotyping, 3 Mutations 5-Fluorouracil SensitivityDYPD 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
0051266Achondroplasia (FGFR3) 2 MutationsAchondroplasiaAD PCR, Skeletal Dysplasias, Neuroblastoma
0051265Achondroplasia Mutation, Fetal AchondroplasiaAD PCR FE, Skeletal Dysplasias
Alpha Thalassemia
3000142Alpha 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
3003651Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant SpringHBA DDCS, A globin, Alpha globin gene analysis, Alpha globin mutations
2011622Alpha Globin (HBA1 and HBA2) Deletion/DuplicationAlpha Thalassemia, HBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin, Hemoglobinopathies
2011708Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/DuplicationAlpha Thalassemia, AG FGA, Hemoglobinopathies
3003656Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring, FetalHBA DDCSFE, A globin, Alpha globin gene analysis, Alpha globin mutations
Alport Syndrome
3002685Alport Syndrome Panel, Sequencing and Deletion/DuplicationCOL4A3, COL4A4, COL4A5, MYH9, Familial nephritis, hereditary nephritis, MYH9-associated disorder, MYH9-related disease, thin basement membrane disease, thin basement membrane nephropathy
Alzheimer's Disease
3001585Early-Onset Alzheimer's Panel, Sequencing Alzheimer's Disease, APOE AZ, e2, e3, e4, APP, PSEN1, PSEN2
2013341Apolipoprotein E (APOE) Genotyping, Alzheimer Disease RiskAlzheimer's DiseaseAPOE AZ
Angelman Syndrome
3006247Angelman Syndrome and Prader-Willi Syndrome by Methylation-Specific MLPAAngelman Syndrome, AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments, UBE3A
Aortopathies
2006540Aortopathy Panel, Sequencing and Deletion/DuplicationAortopathiesAORT 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
3003947Loeys-Dietz Syndrome Core Panel, SequencingAortopathiesTGFBR1, TGFBR2, LDS NGS, LDS FGS, Loeys-Dietz, aortic aneurysm
3004102Marfan Syndrome (FBN1) Sequencing and Deletion/DuplicationAortopathiesFBN1, FBN1 NGS
Apolipoprotein E (APOE)
2013341Apolipoprotein E (APOE) Genotyping, Alzheimer Disease RiskApolipoprotein E (APOE)APOE AZ
2013337Apolipoprotein E (APOE) Genotyping, Cardiovascular Risk Apolipoprotein E (APOE)APOE CR
Arthrogryposis
3003917Distal 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)
0051415Ashkenazi Jewish Diseases, 16 Genes Ashkenazi Jewish Panel (16 disorders)AJP, Jewish Genetic, Fanconi's, Fanconis,ABCC8, TMEM216, NEB, G6PC, DLD, BCKDHB, CLRN1, PCDH15
2013725ABCC8-Related Hyperinsulinism, 3 Variants Ashkenazi Jewish Panel (16 disorders) 
2013745NEB-Related Nemaline Myopathy, 1 Variant Ashkenazi Jewish Panel (16 disorders) 
0051433Bloom Syndrome (BLM),1 VariantAshkenazi Jewish Panel (16 disorders)BLM, Jewish Genetic
0051453Canavan Disease (ASPA), 4 VariantsAshkenazi Jewish Panel (16 disorders)ASPA, Jewish Genetic
3005882Dysautonomia, Familial (ELP1), 2 Variants Ashkenazi Jewish Panel (16 disorders)IKBKAP, Jewish Genetic Disease
0051468Fanconi Anemia Group C, (FANCC), 2 VariantsAshkenazi Jewish Panel (16 disorders)FANCC, Jewish, Ashkenazi, Fanconi's, Fanconis, carrier testing, DNA
2013740Glycogen Storage Disease, Type 1A (G6PC), 9 Variants Ashkenazi Jewish Panel (16 disorders) 
2013909Joubert Syndrome Type 2 (TMEM216), 1 Variant Ashkenazi Jewish Panel (16 disorders) 
2013735Lipoamide Dehydrogenase Deficiency (DLD), 2 Variants Ashkenazi Jewish Panel (16 disorders) 
2013730Maple Syrup Urine Disease, Type 1B (BCKDHB), 3 Variants Ashkenazi Jewish Panel (16 disorders) 
0051448Mucolipidosis Type IV (MCOLN1), 2 VariantsAshkenazi Jewish Panel (16 disorders)MCOLN1, Jewish Genetic, lysosomal
0051458Niemann-Pick, Type A (SMPD1), 4 VariantsAshkenazi Jewish Panel (16 disorders)SMPD1, Jewish Genetic, acid sphingomyelinase, ASM, NP-A, lysosomal storage, L302P, 1bp del fsP330, R496L, R608del
0051428Tay-Sachs Disease (HEXA), 7 VariantsAshkenazi 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
2013750Usher Syndrome, Types 1F and 3 (PCDH15 and CLRN1), 2 Variants Ashkenazi Jewish Panel (16 disorders) 
0051438Gaucher Disease (GBA), 8 Variants Ashkenazi Jewish Panel (16 disorders)GBA, Jewish Genetic, Glucocerebrosidase, Glucosylceramidase
Autism
2014314Autism and Intellectual Disability Comprehensive PanelAutismCreatine, epilepsy, amino acids, organic acids, mucopolysaccharidoses (MPS), MPS, acylcarnitine, mental retardation, Fragile X, microarray
Beckwith-Wiedemann
3001635Beckwith-Wiedemann Syndrome (BWS) and Russell-Silver Syndrome (RSS) by Methylation-Specific MLPA Beckwith-Wiedemann 
Behcet Disease
3017549HLA-B51 Genotyping, Behcet Disease Behcet Disease 
Beta Globin
3004547Beta Globin (HBB) Gene SequencingHemoglobinopathies 
3004550Beta Globin (HBB) Sequencing, Fetal Beta GlobinBG SEQ FE
3003144Deletion/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
3004424Biotinidase Deficiency (BTD) SequencingBiotinidase DeficiencyBTD FGS, Multiple carboxylase
Birt-Hogg-Dubé Syndrome
3005703Birt-Hogg-Dubé Syndrome (FLCN) Sequencing and Deletion/Duplication Birt-Hogg-Dubé SyndromeBirt-Hogg-Dubé Syndrome
Blood Genotyping
0051368Rh Genotyping D Antigen (RhD positive/negative and RhD copy number) Blood GenotypingRHD, Hemolytic Disease of the Newborn, fetal erythroblastosis, isoimmunization, alloimmune hemolytic
3016640RhD Gene (RHD) Copy Number, Fetal Blood GenotypingRHD, Hemolytic Disease of the Newborn, fetal erythroblastosis, isoimmunization, alloimmune hemolytic
3002002RhC/c (RHCE) Antigen Genotyping Blood GenotypingRH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
3016679RhC/c (RHCE) Antigen Genotyping, Fetal Blood GenotypingRH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
3002003RhE/e (RHCE) Antigen Genotyping Blood GenotypingRH E, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
3016682RhE/e (RHCE) Antigen Genotyping, Fetal Blood GenotypingRH E, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
3002001Kell K/k Antigen (KEL) Genotyping Blood GenotypingKEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano
3016676Kell K/k (KEL) Antigen Genotyping, Fetal Blood GenotypingKEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano
3001053Red Blood Cell Antigen Genotyping Blood Genotypingcolton,diego,dombrock,duffy,kell,kidd,landsteiner-wiener,lutheran,mns,rh,scianna
3016639Red Blood Cell Antigen Genotyping, Fetal Blood Genotypingcolton,diego,dombrock,duffy,kell,kidd,landsteiner-wiener,lutheran,mns,rh,scianna
Bone Marrow Failure
3001615Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplicationn Bone Marrow FailureBone Marrow Failure
Breast Cancer
3005654Hereditary Breast Cancer Guidelines-Based Panel, Sequencing and Deletion/Duplication Breast CancerBOCAPAN, 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
3005632Hereditary Breast Cancer High-Risk Panel, Sequencing and Deletion/Duplication Breast CancerBOCAPAN, 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
2012026Hereditary Breast and Gynecological Cancers Panel, Sequencing and Deletion/Duplication Breast CancerBOCAPAN, 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
3001855BRCA1 and BRCA2-Associated HBOC Syndrome Panel, Sequencing and Deletion/DuplicationBreast CancerBRCA FGA, BRACA, HBOC
CADASIL
3004383Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASILCADASILopathy, NOTCH3, notch3
Cancer, Hereditary
2012032Hereditary Cancer Panel, Sequencing and Deletion/Duplication Cancer, HereditaryCANCERPAN, 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
3003634Capillary Malformation-Arteriovenous Malformation (CM-AVM) Panel, Sequencing and Deletion/DuplicationCapillary Malformation-Arteriovenous Malformation (CM-AVM)CMAVM, CMAVM NGS, RASA1, EPHB4
3003144Deletion/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
2010183Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/DuplicationCardiomyopathyCARDIACPAN, 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)
3001579Hypertrophic Cardiomyopathy Panel, SequencingHCM, 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
3001581Dilated Cardiomyopathy Panel, SequencingDCM, 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
3001603Long QT Panel, Sequencing and Deletion/DuplicationLong 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
0051415Ashkenazi Jewish Diseases, 16 Genes Carrier Screening PanelsAJP, Jewish Genetic, Fanconi's, Fanconis,ABCC8, TMEM216, NEB, G6PC, DLD, BCKDHB, CLRN1, PCDH15
3000258Genetic Carrier Screen, (CF, FXS, and SMA) with Reflex to Methylation Carrier Screening PanelsCF FX SMA
2014680Expanded Carrier Screen by Next Generation Sequencing Carrier Screening PanelsECS SEQ
2014677Expanded Carrier Screen by Next Generation Sequencing with Fragile X Carrier Screening PanelsECS SEQ FX
Celiac Disease
3004445Celiac Disease HLA-DQ GenotypingCeliac DiseaseDQ2, 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
3001633Hereditary Central Nervous System Cancer Panel, Sequencing and Deletion/Duplication 
2012032Hereditary Cancer Panel, Sequencing and Deletion/Duplication Central Nervous System CancerCANCERPAN, 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
2012160Charcot-Marie-Tooth Type 1A (CMT1A)/Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), PMP22 Deletion/DuplicationCharcot-Marie-Tooth DiseaseCMT 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
2012155Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/ Duplication with Reflex to Sequencing Panel Charcot-Marie-Tooth DiseaseCMT 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
3005449Chimerism, Recipient, Pretransplant ChimerismChimerism, STR-PRE
3005462Chimerism, Donor ChimerismChimerism, STR-DONOR
3005468Chimerism, Additional Donor ChimerismChimerism, STR-DONOR
3005454Chimerism, Posttransplant ChimerismChimerism, STR-POSTSC
3005401Chimerism, Posttransplant, Sorted Cells (B Cells) ChimerismChimerism, STR-POST
3005441Chimerism, Posttransplant, Sorted Cells (CD 56+ Cells) ChimerismChimerism, STR-POST
3005409Chimerism, Posttransplant, Sorted Cells (CD33+ Cells) ChimerismChimerism, STR-POST
3005433Chimerism, Posttransplant, Sorted Cells (CD34+ Cells) ChimerismChimerism, STR-POST
3005417Chimerism, Posttransplant, Sorted Cells (Granulocytes) ChimerismChimerism, STR-POST
3005425Chimerism, Posttransplant, Sorted Cells (Monocytes) ChimerismChimerism, STR-POST
3005393Chimerism, Posttransplant, Sorted Cells (T Cells) ChimerismChimerism, STR-POST
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders
2011157Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/DuplicationCobalamin/Propionate/Homocysteine Metabolism Related DisordersVB12 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
3004745Cystic Fibrosis (CFTR) Sequencing and Deletion/DuplicationCystic FibrosisCFTR FGA, Diagnostic, CF
2013661Cystic Fibrosis (CFTR) Expanded Variant Panel Cystic FibrosisCF VAR
2013662Cystic Fibrosis (CFTR) Expanded Variant Panel, Fetal Cystic FibrosisCF VAR FE
Cytochrome P450
3001524Cytochrome P450 Genotyping Panel Cytochrome P450Cytochrome P450, CYP2C19, CYP2C8, CYP2C9, CYP2D6, CYP3A4, CYP3A5, pharmacogenetics, PGX
3004255Cytochrome P450 Genotyping Panel, with GeneDose Access Cytochrome P450CYP2C19, CYP2C8, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP GD
3004310CYP2B6 Cytochrome P4502B6, cytochrome p450, bupropion, efavirenz, methadone, nevirapine
3001508CYP2C19 Cytochrome P450Cytochrome P450, clopidogrel (Plavix), antidepressants, voriconazole, protein pump inhibitors (PPIs), omeprazole, pharmacogenetics, PGX
3001501CYP2C8, CYP2C9, and CYP2C cluster Cytochrome P450Cytochrome P450, warfarin, Coumadin, phenytoin, sulfonylureas, glimepiride, gliclazide, glibenclamide, tolbutamide, pharmacogenetics, PGX
3001513CYP2D6 Cytochrome P450Cytochrome P450, antidepressants, antipscyhotics, atomoxetine, tramadol, codeine, oxycodone, tamoxifen, zuclopenthixol, tropisetron, felcainide, metoprolol, propafenone, pharmacogenetics, PGX
3001518CYP3A4 and CYP3A5 Cytochrome P450Cytochrome P450, tacrolimus, pharmacogenetics, PGX
Epilepsy
2007545Childhood-Onset Epilepsy Panel, Sequencing and Deletion/Duplication EpilepsyCHILD 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
2007535Infantile-Onset Epilepsy Panel, Sequencing and Deletion/Duplication EpilepsyINFANT 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
3001591Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication EpilepsyINFANT 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
3005721Hereditary Erythrocytosis Panel, Sequencing ErythrocytosisErythrocytosis
Exome
2006336Exome Sequencing, Proband ExomeEXOSEQ PRO
2006332Exome Sequencing, TrioExomeEXOME SEQ
3001457Exome Reanalysis (Originally Test at ARUP - No Specimen Required) Exome 
Factor V Leiden
0030192APC Resistance Profile with Reflex to Factor V LeidenFactor V LeidenAPC R, Venous thrombosis, Thromboembolism, Thrombophilia, clotting
0097720Factor V Leiden (F5) R506Q Mutation Factor V LeidenFACV, Venous thrombosis, Thromboembolism, Thrombophilia, clotting
2014248Factor V, R2 Mutation Detection by PCR Factor V LeidenF5 R2, Venous thrombosis, Thromboembolism, Thrombophilia, clotting, A4070G
Factor XIII (F13A1) V34L Variant
2003220Factor XIII (F13A1) V34L Variant (assess thrombotic risk in Caucasians) Factor XIII (F13A1) V34L VariantFAC 13 MUT, Venous thrombosis, Thromboembolism, Thrombophilia, clotting
Familial Adenomatous Polyposis
3004407APC- and MUTYH-Associated Polyposis Panel, Sequencing and Deletion/DuplicationGastrointestinal CancerAPC-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>
3002110Familial Hypercholesterolemia Panel, SequencingAPOB, LDLR, LDLRAP1, PCSK9, FH, familial defective apoB, heterozygous familial hypercholesterolemia (HeFH), homozygous familial hypercholesterolemia (HoFH)
Familial Mutation Testing
3005867Familial Targeted Sequencing Familial Mutation TestingSEQ FSM
3005869Familial Targeted Sequencing, Fetal Familial Mutation TestingSEQ 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)
3004531Familial Transthyretin Amyloidosis (TTR)Familial Transthyretin Amyloidosis (TTR) 
Fatty Acid Oxidation Disorders
3001851Fatty 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
0051205Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 MutationsMedium Chain Acyl-CoA Dehydrogenase (MCAD), MCADPCR, Medium-chain acyl-coa dehydrogenase, fatty acid oxidation, MCAD deficiency, ACADM
3004419Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing and Deletion/DuplicationVery Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD), VLCAD FGA
Fragile X
2009033Fragile X (FMR1) with Reflex to Methylation Analysis Fragile XFRAG X PCR, Amenorrhea, Neurocognitive Impairment, mental retardation, X-linked, developmental delay, autism, PDD, ASD, premature ovarian failure, ataxia
2009034Fragile X (FMR1) with Reflex to Methylation Analysis, Fetal Fragile XFX 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
3004457Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing G6PD DeficiencyG6PD AFRIC, Hemolytic Anemias
0051684Glucose-6-Phosphate Dehydrogenase (G6PD), DNA Mutation, African Alleles (A376G, G202A) G6PD DeficiencyG6PD AFRIC, Hemolytic Anemias
Galactosemia
0051175Galactosemia, (GALT) Enzyme Activity & 9 MutationsGalactosemiaGALTPAN Galactosemia Classic Galactosemia Galactose-1-Phosphate Uridyltransferase Deficiency GALT Deficiency Duarte Variant Galactosemia GALT Galactose-1-phosphate uridylyltransferase
0051176Galactosemia, (GALT) 9 Mutations GalactosemiaGALTDNA, Galactosemia
3004716Galactosemia (GALT) Sequencing and Deletion/Duplication GalactosemiaGALT FGA, Galactosemia
0051270Galactosemia, (GALT ) 9 Mutations, Fetal GalactosemiaGALTDNA FE, Galactosemia
Gastrointestinal Cancer
3005963Hereditary Gastric Cancer Panel, Sequencing and Deletion/Duplication Gastrointestinal CancerGICAN 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)
3005697Hereditary Gastrointestinal Cancer High-Risk Panel, Sequencing and Deletion/Duplication Gastrointestinal CancerGICAN 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)
2013449Hereditary Gastrointestinal Cancer Panel, Sequencing and Deletion/Duplication Gastrointestinal CancerGICAN 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)
2012032Hereditary Cancer Panel, Sequencing and Deletion/Duplication Gastrointestinal CancerCANCERPAN, 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
3001605Lynch Syndrome Panel, Sequencing and Deletion/DuplicationMLH1, MSH2, MSH6, PMS2, EPCAM, Hereditary nonpolyposis colorectal cancer (HNPCC), Muir-Torre syndrome, Turcot syndrome, Constitutional Mismatch Repair Deficiency (CMMRD)
3004407APC- and MUTYH-Associated Polyposis Panel, Sequencing and Deletion/DuplicationGastrointestinal CancerAPC-Associated Polyposis, Attenuated FAP, Gardner Syndrome, Turcot Syndrome, MAP Sequencing, MYH-Associated Polyposis Sequencing, APCMYH NGS
Gaucher Disease
3001648Gaucher Disease (GBA) SequencingGaucher DiseaseGlucocerebrosidase Deficiency, Glucosylceramidase Deficiency
0051438Gaucher Disease (GBA), 8 Variants Gaucher DiseaseGBA, Jewish Genetic, Glucocerebrosidase, Glucosylceramidase
Genome
3005928Rapid Whole Genome Sequencing, Familial ControlGenome
3005933Rapid Whole Genome Sequencing, Familial Control with ReportGenome
3005935Rapid Whole Genome SequencingGenome
3005939Rapid Whole Genome ReanalysisGenome
Hearing Loss
3004720Connexin 26 (GJB2) Sequencing and Deletion/DuplicationHearing LossCX26SEQ, Hearing Loss
2001956Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions Hearing LossGJB6 DEL, Hearing Loss
Hemoglobinopathies
2005792Hemoglobin Evaluation Reflexive Cascade HemoglobinopathiesHB CASCADE
3000894Hereditary Hemolytic Anemia Cascade Hemoglobinopathies, HHACASCADE
3004547Beta Globin (HBB) Gene SequencingHemoglobinopathies 
3003144Deletion/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
3004550Beta Globin (HBB) Sequencing, Fetal Beta GlobinBG SEQ FE
2011708Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/DuplicationAlpha Thalassemia, AG FGA, Hemoglobinopathies
3003651Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant SpringHBA DDCS, A globin, Alpha globin gene analysis, Alpha globin mutations
2011622Alpha Globin (HBA1 and HBA2) Deletion/DuplicationHemoglobinopathiesHBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin
3003656Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring, FetalHBA DDCSFE, A globin, Alpha globin gene analysis, Alpha globin mutations
3001957Gamma Globin (HBG1 and HBG2) Sequencing HemoglobinopathiesA-gamma, G-gamma
Hemophilia
3004232Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/DuplicationHemophiliasF8-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
2001759Hemophilia A (F8) 2 Inversions HemophiliasF8 INV, Factor VIII, Factor 8, bleeding, classic hemophilia
3004241Hemophilia A (F8) Sequencing HemophiliasF8 NGS, F8 deficiency sequencing, factor VIII deficiency sequencing
2001755Hemophilia A (F8) 2 Inversions, Fetal HemophiliasF8 INV FE, Factor VIII, Factor 8, bleeding, classic hemophilia
Hereditary Hemochromatosis
0055656Hereditary Hemochromatosis Mutation Detection (C282Y, H63D, & S65C)Hereditary HemochromatosisHFE PCR, HFE-associated hemochromatosis, HFE-HHC, iron overload
Hereditary Hemolytic Anemia
2012052Hereditary Hemolytic Anemia Panel, Sequencing Hereditary Hemolytic AnemiaHHA 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)
2009337Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication Hereditary Hemorrhagic Telangiectasia (HHT)HHT PANEL, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4
2007384Vascular 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)
3001842Hereditary Myeloid Neoplasms Panel, Sequencing Myelodysplastic syndrome (MDS), Acute myeloid leukemia (AML)
Hereditary Paraganglioma-Pheochromocytoma Syndromes
3005912Hereditary Paraganglioma-Pheochromocytoma Expanded Panel, Sequencing and Deletion/Duplication  
3004480Hereditary Paraganglioma-Pheochromocytoma (SDHA, SDHB, SDHC, and SDHD) Panel, Sequencing and Deletion/DuplicationHereditary Paraganglioma-Pheochromocytoma SyndromesAdrenal 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
3002682Heterotaxy and Situs Inversus Panel, Sequencing Kartagener syndrome, primary ciliary dyskinesia, situs inversus totalis, situs ambiguous, situs ambiguus
3001621Primary Ciliary Dyskinesia Panel, SequencingARMC4, 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
2012049HLA-B*15:02 Genotyping, Carbamazepine Hypersensitivity HLA-B*15:02 (Carbamazepine Hypersensitivity) Genotyping, pharmacogenetics, PGX
2002429HLA-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
3001393HLA-B*58:01 Genotyping, Allopurinol Hypersensitivity HLA-B*58:01 (Allopurinol Hypersensitivity) Genotyping, pharmacogenetics, PGX
HLA-B27 (Ankylosing Spondylitis) Genotyping
0050392Ankylosing Spondylitis (HLA-B27) Genotyping HLA-B27 (Ankylosing Spondylitis) GenotypingHLAB27 PCR, IBD
Holoprosencephaly
2008848Holoprosencephaly Panel, Sequencing and Deletion/Duplication HoloprosencephalyHPE PAN, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2
2008863Holoprosencephaly Panel, Sequencing and Deletion/Duplication, FetalHoloprosencephalyHPE PAN FE, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2
Huntington Disease
3016908Huntington Disease (HD) CAG Repeat ExpansionHuntington DiseaseHD, Huntington chorea, CAG trinucleotide repeats, HTT
Kell Antigen Genotyping
3002001Kell K/k Antigen (KEL) Genotyping Kell Antigen GenotypingKEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano
Loeys-Dietz Syndrome
3003947Loeys-Dietz Syndrome Core Panel, Sequencing Loeys-Dietz SyndromeLDS FGS, Loeys-Dietz, aortic aneurysm
Lynch Syndrome
3001605Lynch Syndrome Panel, Sequencing and Deletion/DuplicationMLH1, 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
3002688Malignant Hyperthermia Panel, SequencingCACNA1S, RYR1, Malignant hyperthermia susceptibility (MHS), malignant hyperpyrexia
Methylenetetrahydrofolate Reductase (MTHFR)
0055655Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations Methylenetetrahydrofolate Reductase (MTHFR)MTHFR PCR, Thrombophilia, methotrexate sensitivity, cardiovascular, C677T, A1298C
Microsatellite Instability (MSI)
0049302Mismatch Repair by Immunohistochemistry Microsatellite Instability (MSI)MSI, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch
0051740Microsatellite 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
2005270Mismatch 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
3001593MODY and Neonatal Diabetes Panel, SequencingABCC8, 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
0051448Mucolipidosis Type IV (MCOLN1), 2 VariantsMucolipidosis IVMCOLN1, Jewish Genetic, lysosomal
Multiple Endocrine Neoplasia
3004437Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/DuplicationMultiple Endocrine Neoplasia Type 1 (MEN1)MEN1 FGA, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN)
3004572Multiple Endocrine Neoplasia Type 2 (MEN2), RET SequencingMultiple 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
2011241Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication with Reflex to SequencingMuscular DystrophyDMD REFLEX, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
2011235Duchenne/Becker Muscular Dystrophy (DMD) Deletion/DuplicationMuscular DystrophyDMD DD, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
2011153Duchenne/Becker Muscular Dystrophy (DMD) SequencingMuscular DystrophyDMD SEQ, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
2011231Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication, FetalMuscular DystrophyDMD DD FE, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
3001839Emery-Dreifuss Muscular Dystrophy Panel, SequencingEMD, FHL1, LMNA, EDMD1, EDMD2, EDMD3, EDMD6
3001907Myotonic Dystrophy Type 1 (DMPK) CTG ExpansionMuscular Dystrophy 
Narcolepsy
2005023Narcolepsy (HLA-DQB1*06:02) Genotyping NarcolepsyNARCOLEPSY, Narcolepsy, HLA-DQB1, sleep
Neurofibromatosis Type 1 and Legius SyndromeNeurofibromatosis Type 1 and Legius Syndrome
3003927Neurofibromatosis Type 1 and Legius Syndrome Panel, Sequencing and Deletion/DuplicationNF1, SPRED1, Von Recklinghausen Disease
Non-Alcoholic Fatty Liver Disease
2014599Non-Alcoholic Fatty Liver Disease Susceptibility (PNPLA3) Genotyping

 

Non-Alcoholic Fatty Liver Diseasehepatic steatosis genotyping
Non-Invasive Prenatal Aneuploidy Screen (Cell-Free DNA)
3003043Non-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
2010769Noonan Spectrum Disorders Panel, Sequencing, FetalNoonan SyndromeNOONAN 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
2008767Opioid Receptor, Mu (OPRM1) Genotype, 1 Variant Opioid Receptor, MuOPRM1, opioid receptor, mu, mu receptor, naltrexone, opioid dependency, alcoholism
Osteogenesis Imperfecta
3001607Osteogenesis Imperfecta and Low Bone Density Panel, SequencingALPL, 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
2012026Hereditary Breast and Gynecological Cancers Panel, Sequencing and Deletion/Duplication Ovarian CancerBOCAPAN, 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
3001855BRCA1 and BRCA2-Associated HBOC Syndrome Panel, Sequencing and Deletion/DuplicationOvarian CancerBRCA FGA, BRACA, HBOC
Pancreatic Cancer
3005708Hereditary Pancreatic Cancer Panel, Sequencing and Deletion/Duplication Pancreatic Cancer 
Pancreatitis
3004788Pancreatitis, Panel (CFTR, CTRC, PRSS1, SPINK1) SequencingPancreatitis 
Periodic Fever Syndromes
2007370Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication Periodic Fever SyndromesPRFEVERPAN, 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)
3004434Familial Mediterranean Fever (MEFV) SequencingPeriodic Fever SyndromesFMF 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
3002700Peroxisomal Disorders Panel, SequencingPeroxisomal DisordersABCD3, 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
3006366Pharmacogenetics Panel: Psychotropics, with GeneDose Access PharmacogeneticsPharmacogenetics
Plasminogen Activator Inhibitor-1
2004980Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping Plasminogen Activator Inhibitor-1PAI-1 GENO, Fibrinolytic, thrombosis-associated PAI-1 activity, serpin peptidase inhibitor, 4G/4G, 4G/5G, thrombotic risk
Platelet Antigen Genotyping
3000193Platelet Antigen Genotyping Panel Platelet Antigen GenotypingHPA PAN, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
3016673Platelet Antigen Genotyping Panel, Fetal Platelet Antigen GenotypingHPA PAN, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
Prader-Willi Syndrome
3006247Angelman Syndrome and Prader-Willi Syndrome by Methylation-Specific MLPAAngelman Syndrome, AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments, UBE3A
Primary Antibody Deficiency
2011156Primary Antibody Deficiency Panel, Sequencing and Deletion/DuplicationPrimary Antibody DeficiencyPAD 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
3005686Hereditary Prostate Cancer Panel, Sequencing and Deletion/Duplication Prostate CancerProstate Cancer
Prothrombin (Factor II)
0056060Prothrombin Nucleotide 20210 G/A Gene Mutation (Factor II)Prothrombin (Factor II)PT PCR, F2, G20210A, thrombosis, plasma prothrombin, thrombophilia, clotting
Pulmonary Arterial Hypertension (PAH)
2009345Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/DuplicationPulmonary Arterial Hypertension (PAH)PAH PANEL, ACVRL1/ALK1, BMPR2, CAV1, ENG, KCNK3, EIF2AK4
Renal Cancer
2010214Hereditary Renal Cancer Panel, Sequencing and Deletion/Duplication Renal CancerRENCAPAN, 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
2012032Hereditary Cancer Panel, Sequencing and Deletion/Duplication Renal CancerCANCERPAN, 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
3005696Hereditary Retinoblastoma (RB1) Sequencing and Deletion/Duplication RetinoblastomaRetinoblastoma
Rett Syndrome
3003144Deletion/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
0051368Rh Genotyping D Antigen (RhD positive/negative and RhD copy number) Rh GenotypingRHD, Hemolytic Disease of the Newborn, fetal erythroblastosis, isoimmunization, alloimmune hemolytic
3002002RhC/c (RHCE) Antigen Genotyping Rh GenotypingRH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
3002003RhE/e (RHCE) Antigen Genotyping Rh GenotypingRH E, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
Schwachman-Diamond Syndrome
2006240Schwachman-Diamond Syndrome (SBDS) SequencingSchwachman-Diamond SyndromeSBDS FGS, GeneDx
SHOX Deficiency Disorders
3004603SHOX Deficiency Disorders, Sequencing and Deletion/DuplicationSHOX Deficiency Disorders 
3003144Deletion/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
2012010Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Skeletal DysplasiaSKEL 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
2012015Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication Skeletal DysplasiaSKEL 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
3002673Hereditary Melanoma Panel, Sequencing and Deletion/Duplication  
2012032Hereditary Cancer Panel, Sequencing and Deletion/Duplication Skin CancerCANCERPAN, 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)
2013436Spinal Muscular Atrophy (SMA) Copy Number AnalysisSpinal Muscular Atrophy (SMA)SMA DD
2013444Spinal Muscular Atrophy (SMA) Copy Number Analysis, Fetal Spinal Muscular Atrophy (SMA)SMA DD FE
Statin Sensitivity
2008426SLCO1B1, 1 Variant Statin SensitivitySLCO1B1, stimvastatin, Solute Carrier Organic Anion Transporter Family Member 1B1, rs4149056C, SLCO1B1*5, OATP1B1, organic anion-transporter polypeptide 1B1
Stickler Syndrome
3001613Stickler Syndrome Panel, Sequencingachondrogenesis,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
3004486Tay-Sachs Disease (HEXA) Sequencing and Deletion/DuplicationTay-Sachs DiseaseThexosaminidase A, beta-hexosaminidase A, GM2 gangliosidosis
0051428Tay-Sachs Disease (HEXA), 7 VariantsTay-Sachs DiseaseHEXA, 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
0051506Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 MutationsThanatophoric DysplasiaTD PAN, Skeletal Dysplasias, thanatophoric dysplasia, TD1, TD2, R248C, S249C, G370C, S371C, Y373C, K650E, X807G, X807R, X807S, X807L, X807C, X807W, dwarfism
0051508Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations, Fetal Thanatophoric DysplasiaTD PAN FE, Skeletal Dysplasias, thanatophoric dysplasia, TD1, TD2, R248C, S249C, G370C, S371C, Y373C, K650E, X807G, X807R, X807S, X807L, X807C, X807W, dwarfism
Thrombotic Risk
0030133Thrombotic Risk, Inherited Etiologies (Most Common) with Reflex to Factor V LeidenThrombotic RiskTHROM COM, Venous thrombosis, Thromboembolism, Thrombophilia, Factor V Leiden, F5, R506Q, F2, G20210A, thrombosis, plasma prothrombin, clotting
0056200Thrombotic Risk, DNA Panel (FVL, Factor II, MTHFR) Thrombotic RiskTHROMDNA, Thrombophilia, cardiovascular, C677T, A1298C, F2, G20210A, thrombosis, plasma prothrombin, Factor V Leiden, F5, R506Q, methylenetetrahydrofolate reductase, venous thrombosis, thromboembolism, clotting
Thyroid Cancer
3005944Hereditary Thyroid Cancer Panel, Sequencing and Deletion/Duplication  
Twin Zygosity Testing
3016875Twin Zygosity Twin Zygosity TestingTWIN ZYG, Fetal zygosity, mono/dizygotic differentiation
UGT1A1 Gene Analysis
3004386UGT1A1 Sequencing UGT1A1 Gene AnalysisCrigler-Najjar type 1 (CN1), Crigler-Najjar type 2 (CN2)
0051332UDP Glucuronosyltransferase 1A1 (UGT1A1) Genotyping UGT1A1 Gene AnalysisUGT1A1, Irinotecan, Pharmacogenetics (PGx), Colorectal Cancer
Vascular Malformation Syndromes
2007384Vascular Malformations Panel, Sequencing and Deletion/Duplication Vascular Malformation SyndromesVACS 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 
2009337Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication Vascular Malformation SyndromesHHT PANEL, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4
3003634Capillary Malformation-Arteriovenous Malformation (CM-AVM) Panel, Sequencing and Deletion/DuplicationRASA1-Related Disorders, RASA1 FGA, RASA1, CM-AVM, Parkes Weber
Von Willebrand Disease
3004379von Willebrand Disease(VWF) SequencingVon Willebrand DiseaseVWF2A, VWF2N, VWF2M, VWF2B, Type 2A, Type 2N, Type 2M, Type 2B, VWD, VWD2A, VWD2N, VWD2M, VWD2B, VWF NGS
Warfarin Genotyping
3001541Warfarin Sensitivity (CYP2C9, CYP2C cluster, CYP4F2, VKORC1) Genotyping WarfarinWarfarin Genotyping, warfarin, Coumadin, pharmacogenetics, PGX
Wilson Disease
3004411Wilson Disease (ATP7B) SequencingWilson Disease 
X-Chromosome Inactivation
2006352X-Chromosome Inactivation Analysis X-Chromosome InactivationXCI
Y Chromosome Microdeletion
2001778Y Chromosome MicrodeletionY Chromosome MicrodeletionY CHROM, Male Infertility, PCR