Molecular Genetics

 

• GeneReviews

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	GeneReviews	Achondroplasia	AD PCR, Skeletal Dysplasias, Neuroblastoma
0051265	Achondroplasia Mutation, Fetal		Achondroplasia	AD PCR FE, Skeletal Dysplasias
Alpha Fetoprotein, Amniotic Fluid
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	GeneReviews	HBA DDCS, A globin, Alpha globin gene analysis, Alpha globin mutations
2011622	Alpha Globin (HBA1 and HBA2) Deletion/Duplication	GeneReviews	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	GeneReviews	Alpha Thalassemia, AG FGA, Hemoglobinopathies
3003656	Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring, Fetal	GeneReviews	HBA DDCSFE, A globin, Alpha globin gene analysis, Alpha globin mutations
3019566	Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication, Fetal	GeneReviews
Alport Syndrome
3002685	Alport Syndrome Panel, Sequencing and Deletion/Duplication	GeneReviews	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	GeneReviews	Alzheimer's Disease	APOE AZ
Angelman Syndrome
3006247	Angelman Syndrome and Prader-Willi Syndrome by Methylation-Specific MLPA	GeneReviews	Angelman Syndrome, AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments, UBE3A
Aortopathies
2006540	Aortopathy Panel, Sequencing and Deletion/Duplication	GeneReviews: MFS GeneReviews: TAAD GeneReviews: LDS GeneReviews: EDS IV GeneReviews: CCA	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	GeneReviews	Aortopathies	TGFBR1, TGFBR2, LDS NGS, LDS FGS, Loeys-Dietz, aortic aneurysm
3004102	Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication	GeneReviews	Aortopathies	FBN1, FBN1 NGS
Apolipoprotein E (APOE)
2013341	Apolipoprotein E (APOE) Genotyping, Alzheimer Disease Risk	GeneReviews	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	GeneReviews	Ashkenazi Jewish Panel (16 disorders)	BLM, Jewish Genetic
0051453	Canavan Disease (ASPA), 4 Variants	GeneReviews	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	GeneReviews	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	GeneReviews	Ashkenazi Jewish Panel (16 disorders)	MCOLN1, Jewish Genetic, lysosomal
0051458	Niemann-Pick, Type A (SMPD1), 4 Variants	GeneReviews	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	GeneReviews	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	Patient History for Autism and Intellectual Disability	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	GeneReviews	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	GeneReviews	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	GeneReviews	Breast Cancer	BRCA FGA, BRACA, HBOC
CADASIL
3004383	Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL	Gene Review	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	GeneReviews	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	GeneReviews: Hypertrophic Cardiomyopathy GeneReviews: Dilated Cardiomyopathy GeneReviews: CPVT GeneReviews: Brugada GeneReviews: LQTS	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	GeneReviews: Hypertrophic Cardiomyopathy	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	GeneReviews: Dilated Cardiomyopathy	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	GeneReviews: LQTS	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	GeneReviews	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	GeneReviews	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	GeneReviews: Methylmalonic Acidemia GeneReviews: Propionic Acidemia GeneReviews: Homocystinuria	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	CF Test Comparison Chart	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	Patient History and Informed Consent	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	GeneReviews	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	GeneReviews	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	GeneReviews	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)	GeneReviews	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	GeneReviews	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	GeneReviews	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	GeneReviews	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	GeneReviews	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	GeneReviews	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	GeneReviews	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	Patient History	Genome
3005933	Rapid Whole Genome Sequencing, Familial Control with Report	Patient History	Genome
3005935	Rapid Whole Genome Sequencing	Patient History	Genome
3005939	Rapid Whole Genome Reanalysis	Patient History	Genome
Hearing Loss
3004720	Connexin 26 (GJB2) Sequencing and Deletion/Duplication	GeneReviews: DFNB1 Autosomal Recessive GeneReviews: DFNA3 Autosomal Dominant	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	GeneReviews	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	GeneReviews	Alpha Thalassemia, AG FGA, Hemoglobinopathies
3003651	Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring	GeneReviews	HBA DDCS, A globin, Alpha globin gene analysis, Alpha globin mutations
2011622	Alpha Globin (HBA1 and HBA2) Deletion/Duplication	GeneReviews	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	GeneReviews	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	GeneReviews	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)	GeneReviews	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	GeneReviews	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	GeneReviews	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	GeneReviews	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	GeneReviews	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	GeneReviews	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	GeneReviews	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	GeneReviews	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	GeneReviews	Mucolipidosis IV	MCOLN1, Jewish Genetic, lysosomal
Multiple Endocrine Neoplasia
3004437	Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication	Gene Tests Review	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	GeneReviews	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	GeneReviews	Muscular Dystrophy	DMD REFLEX, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
2011235	Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication	GeneReviews	Muscular Dystrophy	DMD DD, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
2011153	Duchenne/Becker Muscular Dystrophy (DMD) Sequencing	GeneReviews	Muscular Dystrophy	DMD SEQ, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
2011231	Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication, Fetal	GeneReviews	Muscular Dystrophy	DMD DD FE, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
3001839	Emery-Dreifuss Muscular Dystrophy Panel, Sequencing	GeneReviews	EMD, FHL1, LMNA, EDMD1, EDMD2, EDMD3, EDMD6
3001907	Myotonic Dystrophy Type 1 (DMPK) CTG Expansion	GeneReviews	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	GeneReviews	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	GeneReviews	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	GeneReviews	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	GeneReviews	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	GeneReviews	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	GeneReviews	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	GeneReviews	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	GeneReviews	Angelman Syndrome, AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments, UBE3A
Primary Antibody Deficiency
2011156	Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication	GeneReviews: Agammaglobulinemia GeneReviews: Hyper IgM Syndrome GeneReviews: Lymphoproliferative Disease	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)	GeneReviews	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	GeneReviews	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	GeneReviews	Schwachman-Diamond Syndrome	SBDS FGS, GeneDx
SHOX Deficiency Disorders
3004603	SHOX Deficiency Disorders, Sequencing and Deletion/Duplication	GeneReviews	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	GeneReviews	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	GeneReviews GeneReviews	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	GeneReviews	Tay-Sachs Disease	Thexosaminidase A, beta-hexosaminidase A, GM2 gangliosidosis
0051428	Tay-Sachs Disease (HEXA), 7 Variants	GeneReviews	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	GeneReviews	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	GeneReviews: Factor II GeneReviews: FVL	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	GeneReviews	RASA1-Related Disorders, RASA1 FGA, RASA1, CM-AVM, Parkes Weber
Von Willebrand Disease
3004379	von Willebrand Disease(VWF) Sequencing	GeneReviews	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	GeneReviews	Wilson Disease
X-Chromosome Inactivation
2006352	X-Chromosome Inactivation Analysis		X-Chromosome Inactivation	XCI
Y Chromosome Microdeletion
2001778	Y Chromosome Microdeletion	GeneReviews	Y Chromosome Microdeletion	Y CHROM, Male Infertility, PCR