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| Test # | Test Name | Additional Information | Specialty | Test Keywords |
|---|---|---|---|---|
| Alport Syndrome | ||||
| 3002685 | Alport Syndrome Panel, Sequencing and Deletion/Duplication | COL4A3, COL4A4, COL4A5, MYH9, Familial nephritis, hereditary nephritis, MYH9-associated disorder, MYH9-related disease, thin basement membrane disease, thin basement membrane nephropathy | ||
| Alzheimer’s Disease | ||||
| 3001585 | Early-Onset Alzheimer's Panel, Sequencing | Alzheimer’s Disease | ||
| Aortopathies | ||||
| 2006540 | Aortopathy Panel, Sequencing and Deletion/Duplication | Aortopathies | AORT PANEL, Thoracic aortic aneurysms, dissections, familial thoracic TAAD AAT, ACTA2 (AAT6), FBN1, MYH11 (AAT4), MYLK (AAT7), SMAD3, TGFBR1 (AAT5), TGFBR2 (AAT3), SLC2A10, FBN2, COL3A1 ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, MYLK, PLOD1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2 | |
| 3003947 | Loeys-Dietz Syndrome Core Panel, Sequencing | TGFBR1, TGFBR2, LDS NGS | ||
| 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 | ||
| Bone Marrow FailureBone Marrow Failure | ||||
| 3001615 | Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplication | Bone Marrow Failure | ||
| Breast Cancer | ||||
| 3005654 | Hereditary Breast Cancer Guidelines-Based Panel, Sequencing and Deletion/Duplication | Breast Cancer, BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 | ||
| 3005632 | Hereditary Breast Cancer High-Risk Panel, Sequencing and Deletion/Duplication | Breast Cancer, BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 | ||
| 2012026 | Hereditary Breast and Gynecological Cancers Panel, Sequencing and Deletion/Duplication | Breast Cancer, BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 | ||
| 3001855 | BRCA1 and BRCA2-Associated HBOC Syndrome Panel, Sequencing and Deletion/Duplication | Breast Cancer | ||
| 2012032 | Hereditary Cancer Panel, Sequencing and Deletion/Duplication | Breast Cancer | ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FH, FLCN, MAX, MEN1, MET, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PHOX2B, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, RB1, RECQL, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1 | |
| Capillary Malformation-Arteriovenous Malformation (CM-AVM) | ||||
| 3003634 | Capillary Malformation-Arteriovenous Malformation (CM-AVM) Panel, Sequencing and Deletion/Duplication | Capillary Malformation-Arteriovenous Malformation (CM-AVM) | CMAVM, CMAVM NGS, RASA1, EPHB4 | |
| 3003144 | Deletion/Duplication Analysis by MLPA | Capillary Malformation-Arteriovenous Malformation (CM-AVM) | ABCD1, ACADVL, ACVRL1, APC, ATP7A, BMPR1A, BRCA1, BRCA2, CFTR, COL4A5, ENG, F8, F9, FBN1, HBB, MECP2, MEN1, MLH1, MSH2, MSH6, NF1, OTC, PKD1, PKD2, PLOD1, PMS2, PRSS1, PTEN, RASA1, SDHB, SDHC, SDHD, SLC22A5, SHOX, SMAD4, SPINK1, SPRED1, STK11, TP53, VHL | |
| Cardiomyopathy | ||||
| 2010183 | Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication | Cardiomyopathy | CARDIACPAN, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM), Arrhythmogenic right vernticular cardiomyopathy (ARVC), Left ventricular noncompaction (LVNC), catecholaminergic polymorphic ventricular tachycardia (CPVT), Brugada syndrome (BrS), Long QT syndrome (LQTS), Romano-Ward, Short QT syndrome (SQTS), ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNB2, CASQ2, CAV3, CORIN, COX15, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, FXN, GAA, GLA, GPD1L, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KLHL3, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYH10, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEXN, OBSCN, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, SYNE1, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, TTR, VCL ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNB2, CASQ2, CAV3, CORIN, COX15, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, FXN, GAA, GLA, GPD1L, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KLHL3, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYH10, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEXN, OBSCN, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, SYNE1, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, TTR, VCL, arrhythmogenic right ventricular cardiomyopathy (ARVC), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular noncompaction (LVNC), long QT syndrome (LQTS), Romano-Ward, short QT syndrome (SQTS) | |
| 3001579 | Hypertrophic Cardiomyopathy Panel, Sequencing | 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 | 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 | 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 | ||
| Central Nervous System CancerCentral Nervous System Cancer | ||||
| 3001633 | Hereditary Central Nervous System Cancer Panel, Sequencing and Deletion/Duplication | |||
| Charcot-Marie-Tooth Disease | ||||
| 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 | |
| 2012151 | Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing | Charcot-Marie-Tooth Disease | CMT SEQ, 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 | |
| Cobalamin/Propionate/Homocysteine Metabolism Related Disorders | ||||
| 2011157 | Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication | Cobalamin/Propionate/Homocysteine Metabolism Related Disorders | VB12 PANEL, "ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, HCFC1, LMBRD1, MAT1A, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, PCCA, PCCB, SUCLA2, SUCLG1, TCN1, TCN2 Methylmalonic aciduria and homocystinuria, cblJ type Combined malonic and methylmalonic aciduria Megaloblastic anemia-1, Norwegian type Homocystinuria due to cystathionine beta-synthase deficiency Methylmalonic aciduria due to transcobalamin receptor defect Megaloblastic anemia-1, Finnish type Intrinsic factor deficiency Methylmalonic acidemia and homocysteinemia, cblX type Methylmalonic aciduria and homocystinuria, cblF type Methionine adenosyltransferase deficiency Methylmalonyl-CoA epimerase deficiency Methylmalonic aciduria, cblA type Methylmalonic aciduria, cblB type Methylmalonic aciduria and homocystinuria, cblC type Methylmalonic aciduria and homocystinuria, cblD type Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity Homocystinuria-megaloblastic anemia, cblG type Homocystinuria-megaloblastic anemia, cbl E type Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Propionic acidemia Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) Transcobalamin I deficiency Transcobalamin II deficiency | |
| Epilepsy | ||||
| 3001591 | Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication | Epilepsy | ||
| Erythrocytosis | ||||
| 3005721 | Hereditary Erythrocytosis Panel, Sequencing | Erythrocytosis | ||
| Familial HypercholesterolemiaAPOB, LDLR, LDLRAP1, PCSK9, FH, familial defective apoB, heterozygous familial hypercholesterolemia (HeFH), homozygous familial hypercholesterolemia (HoFH)/span> | ||||
| 3002110 | Familial Hypercholesterolemia Panel, Sequencing | APOB, LDLR, LDLRAP1, PCSK9, FH, familial defective apoB, heterozygous familial hypercholesterolemia (HeFH), homozygous familial hypercholesterolemia (HoFH) | ||
| Fatty Acid Oxidation Disorders | ||||
| 3001851 | Fatty Acid Oxidation Disorders Panel, Sequencing | Fatty Acid Oxidation Disorders Panel, Sequencing | 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 | |
| Gastrointestinal Cancer | ||||
| 3005963 | Hereditary Gastric Cancer Panel, Sequencing and Deletion/Duplication | Gastrointestinal Cancer | GICAN PAN, APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, colon, colorectal, cancer, gastrointestinal, stomach, GI cancer, polyp, FAP, polyposis, diffuse gastric, Lynch, HNPCC, MAP, Juvenile Polyposis, Peutz-Jeghers, Li-Fraumeni APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, diffuse gastric cancer, familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP) | |
| 3005697 | Hereditary Gastrointestinal Cancer High-Risk Panel, Sequencing and Deletion/Duplication | Gastrointestinal Cancer | GICAN PAN, APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, colon, colorectal, cancer, gastrointestinal, stomach, GI cancer, polyp, FAP, polyposis, diffuse gastric, Lynch, HNPCC, MAP, Juvenile Polyposis, Peutz-Jeghers, Li-Fraumeni APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, diffuse gastric cancer, familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP) | |
| 2013449 | Hereditary Gastrointestinal Cancer Panel, Sequencing and Deletion/Duplication | Gastrointestinal Cancer | GICAN PAN, APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, colon, colorectal, cancer, gastrointestinal, stomach, GI cancer, polyp, FAP, polyposis, diffuse gastric, Lynch, HNPCC, MAP, Juvenile Polyposis, Peutz-Jeghers, Li-Fraumeni APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, diffuse gastric cancer, familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP) | |
| 2012032 | Hereditary Cancer Panel, Sequencing and Deletion/Duplication | Gastrointestinal Cancer | CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel | |
| 3001605 | Lynch Syndrome Panel, Sequencing and Deletion/Duplication | MLH1, MSH2, MSH6, PMS2, EPCAM, Hereditary nonpolyposis colorectal cancer (HNPCC), Muir-Torre syndrome, Turcot syndrome, Constitutional Mismatch Repair Deficiency (CMMRD) | ||
| 3004407 | APC- and MUTYH-Associated Polyposis Panel, Sequencing and Deletion/Duplication | Gastrointestinal Cancer | APC-Associated Polyposis, Attenuated FAP, Gardner Syndrome, Turcot Syndrome, MAP Sequencing, MYH-Associated Polyposis Sequencing, APCMYH NGS | |
| Hereditary Hemolytic AnemiaHereditary 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 | ||||
| 3000894 | Hereditary Hemolytic Anemia Cascade | AK1 HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY ALDOA GLYCOGEN STORAGE DISEASE XII ANK1 SPHEROCYTOSIS, TYPE 1 CDAN1 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA CYB5R3 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE EPB41 ELLIPTOCYTOSIS 1 EPB42 SPHEROCYTOSIS, TYPE 5 G6PD NONSPHEROCYTIC HEMOLYTIC ANEMIA DUE TO G6PD DEFICIENCY GCLC HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY GPI NONSPHEROCYTIC HEMOLYTIC ANEMIA DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GSR HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY GSS HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY HK1 NONSPHEROCYTIC HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY NT5C3A HEMOLYTIC ANEMIA DUE TO URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY PFKM GLYCOGEN STORAGE DISEASE VII PGK1 PHOSPHOGLYCERATE KINASE 1 DEFICIENCY PIEZO1 DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA PKLR PYRUVATE KINASE DEFICIENCY SEC23B CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II SLC4A1 SPHEROCYTOSIS, TYPE 4 OVALOCYTOSIS, SOUTHEAST ASIAN TYPE CRYOHYDROCYTOSIS SLCO1B1 HYPERBILIRUBINEMIA, ROTOR TYPE SPTA1 ELLIPTOCYTOSIS 2 PYROPOIKILOCYTOSIS SPHEROCYTOSIS, TYPE 3 SPTB SPHEROCYTOSIS, TYPE 2 ELLIPTOCYTOSIS 3 TPI1 HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY UGT1A1 GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME, TYPES I AND II HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL UGT1A6 UGT1A7 | ||
| 2012052 | Hereditary Hemolytic Anemia Panel Sequencing | HHA SEQ, AK1, ALDOA, ANK1, CDAN1, CYB5R3, EPB41, EPB42, G6PD, GCLC, GPI, GSR, GSS, HK1, NT5C3A, PFKM, PGK1, PIEZO1, PKLR, SEC23B, SLC4A1, SLCO1B1, SLCO1B3, SPTA1, SPTB, TPI1, UGT1A1, UGT1A6, UGT1A7, Dehydrated hereditary stomatocytosis, Gilbert syndrome, Glucose-6-phosphate dehydrogenase deficiency, Hereditary elliptocytosis, Hereditary pyropoikilocytosis, Hereditary spherocytosis, Pyruvate kinase deficiency, RBC enzymopathies, RBC membrane defects, Xerocytosis | ||
| 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 | |
| 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 | 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 | |
| 3004480 | Hereditary Paraganglioma-Pheochromocytoma (SDHA, SDHB, SDHC, and SDHD) Panel, Sequencing and Deletion/Duplication | Hereditary Paraganglioma-Pheochromocytoma Syndromes | Adrenal cortical adenoma; adrenal medulla tumor; Carney-Stratakis syndrome; carotid body tumors and multiple extra-adrenal pheochromocytomas; esophageal leiomyoma; gastrointestinal stromal tumor; GIST; hereditary paraganglioma-pheochromocytoma; HNPGL; jugulotympanic paraganglioma; mitochondrial complex II deficiency, nuclear type 1; mitochondrial complex II deficiency, nuclear type 3; mitochondrial complex II deficiency, nuclear type 4; neuroendocrine tumor; papillary thyroid carcinoma; paraganglioma; paragangliomas 1; paragangliomas 3; paragangliomas 4; paragangliomas 5; paraganglioma and gastric stromal sarcoma; PCC; PGL; PGL/PCC; pituitary adenoma; pulmonary chondroma; renal clear cell carcinoma; succinate dehydrogenase; succinate dehydrogenase, subunit A; succinate dehydrogenase, subunit B; succinate dehydrogenase, subunit C; succinate dehydrogenase, subunit D; vagal paraganglioma | |
| Heterotaxy/Situs InversusARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DRC1, GAS8, LRRC6, MCIDAS, NME8, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10, Kartagener syndrome | ||||
| 3002682 | Heterotaxy and Situs Inversus Panel, Sequencing | Kartagener syndrome, primary ciliary dyskinesia, situs inversus totalis, situs ambiguous, situs ambiguus | ||
| 3001621 | Primary Ciliary Dyskinesia Panel, Sequencing | ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DRC1, GAS8, LRRC6, MCIDAS, NME8, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10, Kartagener syndrome | ||
| 3005912 | Hereditary Paraganglioma-Pheochromocytoma Expanded Panel, Sequencing and Deletion/Duplication | |||
| Holoprosencephaly | ||||
| 2008848 | Holoprosencephaly Panel, Sequencing and Deletion/Duplication | Holoprosencephaly | HPE PAN, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2 | |
| 2008863 | Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal | Holoprosencephaly | HPE PAN FE, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2 | |
| Lynch Syndrome | ||||
| 3001605 | Lynch Syndrome Panel, Sequencing and Deletion/Duplication | MLH1, MSH2, MSH6, PMS2, EPCAM, Hereditary nonpolyposis colorectal cancer (HNPCC), Muir-Torre syndrome, Turcot syndrome, Constitutional Mismatch Repair Deficiency (CMMRD) | ||
| Malignant Hyperthermia SusceptibilityCACNA1S, RYR1, Malignant hyperthermia susceptibility (MHS), malignant hyperpyrexia | ||||
| 3002688 | Malignant Hyperthermia Panel, Sequencing | CACNA1S, RYR1, Malignant hyperthermia susceptibility (MHS), malignant hyperpyrexia | ||
| MODY and Neonatal Diabetes | ||||
| 3001593 | MODY and Neonatal Diabetes Panel, Sequencing | ABCC8, Diabetes mellitus, permanent neonatal 3, with or without neurologic features, Diabetes mellitus, transient neonatal 2, Hyperinsulinemic hypoglycemia, familial, 1, Hypoglycemia of infancy, leucine sensitive, APPL1, BLK, CEL, EIF2AK3, Wolcott-Rallison syndrome, FOXP3, Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, GATA4, GATA6, Pancreatic agenesis and congenital heart defects, GCK, NIDDM, late onset, Hyperinsulinemic hypoglycemia, familial, 3, Diabetes mellitus, permanent neonatal 1, HNF1A, NIDDM 2, IDDM 20, HNF1B, NIDDM, Renal cysts and diabetes syndrome, HNF4A, NIDDM, Fanconi renotubular syndrome 4, with MODY, INS, IDDM2, Diabetes mellitus, permanent neonatal, Hyperproinsulinemia, KCNJ11, Diabetes mellitus, transient neonatal, 3, Diabetes, permanent neonatal 2, with or without neurologic features, Hyperinsulinemic hypoglycemia, familial 2, KLF11, NEUROD1, NEUROG3, Diarrhea 4, malabsorptive, congenital, PAX4, Diabetes mellitus, type 2, PDX1, Pancreatic agenesis 1, RFX6, Mitchell-Riley syndrome, SLC19A2, Thiamine-responsive megaloblastic anemia syndrome, WFS1, NIDDM, Wolfram-like syndrome, AD, Wolfram syndrome 1, ZFP57, Diabetes mellitus, transient neonatal, 1 | ||
| Neurofibromatosis Type 1 and Legius SyndromeNeurofibromatosis Type 1 and Legius Syndrome | ||||
| 3003927 | Neurofibromatosis Type 1 and Legius Syndrome Panel, Sequencing and Deletion/Duplication | NF1, SPRED1, Von Recklinghausen Disease | ||
| Neuromuscular Disorders | ||||
| 3001839 | Emery-Dreifuss Muscular Dystrophy Panel, Sequencing | EMD, FHL1, LMNA, EDMD1, EDMD2, EDMD3, EDMD6 | ||
| Noonan Syndrome | ||||
| 2010772 | Noonan Spectrum Disorders Panel, Sequencing | Noonan Syndrome | NOONAN SEQ, 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 | |
| 2010769 | Noonan Spectrum Disorders Panel, Sequencing, Fetal | Noonan Syndrome | NOONAN FE, BRAF, CBL, HRAS, KAT6B, KRAS, MAP2K1/MEK1, MAP2K2/MEK2, NRAS, PTPN11, RAB20AL, RAF, RIT1, SHOC2, SOS1, SPRED1, Noonan Syndrome, Cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, LEOPARD syndrome, Noonan-like syndrome with loose anagen hair | |
| Osteogenesis Imperfecta | ||||
| 3001607 | Osteogenesis Imperfecta and Low Bone Density Panel, Sequencing | ALPL, Hypophosphatasia, ANO5, Gnathodiaphyseal dysplasia, BMP1, OI, type XIII, CASR, Hyperparathyroidism, neonatal severe, CLCN5, Hypophosphatemic rickets, Dent disease 1, COL1A1, Caffey disease, OI types I, II, III, and IV, Ehlers-Danlos syndrome, Arthrochalasia type 1 , COL1A2, Ehlers-Danlos syndrome, Arthrochalasia type 2, CREB3L1, OI, type XVI, CRTAP, OI, type VII, CYP27B1, Vitamin D hydroxylation, FKBP10, Bruck syndrome 1, OI, type XI, GORAB, Geroderma osteodysplasticum, IFITM5, OI, type V, LRP5, Endosteal hyperostosis, Van Buchem disease, type 2, Osteoporosis-pseudoglioma syndrome, Exudative vitreoretinopathy 4, P3H1, OI, type VIII, P4HB, Cole-Carpenter syndrome 1, PLOD2, Bruck syndrome 2, PLS3, PPIB, OI, type IX, SEC24D, Cole-Carpenter syndrome 2, SERPINF1, OI, type VI, SERPINH1, OI, type X, SLC34A3, Hypophosphatemic rickets with hypercalciuria, hereditary, SP7, OI, type XII, SPARC, OI, type XVII, TMEM38B, OI, type XIV, WNT1, OI, type XV | ||
| Ovarian Cancer | ||||
| 2012026 | Hereditary Breast and Gynecological Cancers Panel, Sequencing and Deletion/Duplication | 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 | Ovarian Cancer | ||
| 2012032 | Hereditary Cancer Panel, Sequencing and Deletion/Duplication | Ovarian Cancer | ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FH, FLCN, MAX, MEN1, MET, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PHOX2B, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, RB1, RECQL, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1 | |
| Pancreatic CancerPancreatic Cancer | ||||
| 3005708 | Hereditary Pancreatic Cancer Panel, Sequencing and Deletion/Duplication | Pancreatic Cancer | ||
| Pancreatitis | ||||
| 3004788 | Pancreatitis, Panel (CFTR, CTRC, PRSS1, SPINK1) Sequencing | Pancreatitis, | ||
| Periodic Fever Syndromes | ||||
| 2007370 | Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication | Periodic Fever Syndromes | PRFEVERPAN, MEFV, MVK, LPIN2, TNFRSF1A, NLRP3, CIAS1, ELANE, ELA2, PSTPIP1, pyrin, mevalonate kinase, lipin-2, tumor necrosis factor receptor 1, cryopyrin, neutrophil elastase, proline-serine-threonine phosphatase-interacting protein 1, CD2-binding protein 1, Familial Mediterranean Fever, FMF, Hyperimmunoglobulinemia D syndrome, HIDS, Majeed Syndrome, TRAPS, Familial Cold Autoinflammatory Syndrome, FCAS, Muckle-Wells Syndrome, neonatal onset multisystem inflammatory disease, NOMID, chronic infantile neurological cutaneous and articular syndrome, CINCA, Severe Congenital Neutropenia, Cyclic Neutropenia, Kostmann syndrome, genetic infantile agranulocytosis, Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, Acne, PAPA ELANE/ELA2, LPIN2, MEFV, MVK, NLRP3/CIAS1, PSTPIP1, TNFRSF1A, chronic infantile neurological cutaneous and articular syndrome (CINCA), Cyclic Neutropenia, Familial Cold Autoinflammatory Syndrome (FCAS), Familial Mediterranean Fever (FMF), Hyperimmunoglobulinemia D syndrome (HIDS), Majeed Syndrome, Muckle-Wells Syndrome, neonatal onset multisystem inflammatory disease (NOMID), Severe Congenital Neutropenia, [Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, Acne, (PAPA)], Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) | |
| Peroxisomal DisordersPeroxisomal Disorders, ABCD3, ACBD5, ACOX1, AGPS, AGXT, AMACR, DNM1L, FAR1, GNPAT, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2 Zellweger spectrum disorder, Zellweger syndrome, Refsum disease, infantile Refsum disease, rhizomelic chondrodysplasia punctata, peroxisomal acyl-CoA oxidase deficiency, hyperoxaluria, Heimler syndrome, Mitchell syndrome, defects of bile acid synthesis, congenital bile acid synthesis defect, primary hyperoxaluria, Perrault syndrome, bifunctional enzyme deficiency, PEX, RCDP | ||||
| 3002700 | Peroxisomal Disorders Panel, Sequencing | Peroxisomal Disorders | ABCD3, ACBD5, ACOX1, AGPS, AGXT, AMACR, DNM1L, FAR1, GNPAT, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2 Zellweger spectrum disorder, Zellweger syndrome, Refsum disease, infantile Refsum disease, rhizomelic chondrodysplasia punctata, peroxisomal acyl-CoA oxidase deficiency, hyperoxaluria, Heimler syndrome, Mitchell syndrome, defects of bile acid synthesis, congenital bile acid synthesis defect, primary hyperoxaluria, Perrault syndrome, bifunctional enzyme deficiency, PEX, RCDP | |
| Pharmacogenetics Panels | ||||
| 3004471 | Pharmacogenetics Panel: Psychotropics | pharmacogenetics | pharmacogenetics, psychotropics | |
| 3006366 | Pharmacogenetics Panel: Psychotropics, with GeneDose Access | pharmacogenetics | pharmacogenetics, psychotropics | |
| 3001524 | Cytochrome P450 Genotyping Panel | Cytochrome P450 | CYP2C19, CYP2C8, CYP2C9, CYP2D6, CYP3A4, CYP3A5 | |
| 3004255 | Cytochrome P450 Genotyping Panel, with GeneDose Access | Cytochrome P450 | CYP2C19, CYP2C8, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP GD | |
| Primary Antibody Deficiency | ||||
| 2011156 | Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication | Primary Antibody Deficiency | PAD PANEL, ADA, AICDA, ATM, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, ICOS, IGHM, IGLL1, IKBKG, LRBA, LRRC8A, MRE11A, MS4A1, NBN/NBS1, NFKB2, NFKBIA, PIK3CD, PIK3R1, PLCG2, PRKCD, PTPRC, RAG2, SH2D1A, TNFRSF13B, TNFRSF13C, UNG, VAV1, XIAP/BIRC4, CVID, common variable immunodeficiency, common variable immune deficiency, common variable hypogammaglobulinemia, IgA deficiency, selective IgA deficiency, selective IgM deficiency, IgG deficiency, IgG subclass deficiency, hypogammaglobulinemia, agammaglobulinemia, panhypogammaglobulinemia, Hyper-IgM syndrome, HIGM syndrome, HIGM1, HIGM2, HIGM3, HIGM4, HIGM5, immunoglobulin class-switch deficiency, selective antibody deficiency, anti-polysaccharide antibody deficiency, late-onset combined immunodeficiency, late-onset immunoglobulin deficiency, B cell deficiency | |
| Prostate CancerProstate Cancer | ||||
| 3005686 | Hereditary Prostate Cancer Panel, Sequencing and Deletion/Duplication | Prostate Cancer | ||
| Pulmonary Arterial Hypertension (PAH) | ||||
| 2009345 | Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication | Pulmonary Arterial Hypertension (PAH) | PAH PANEL, ACVRL1/ALK1, BMPR2, CAV1, ENG, KCNK3, EIF2AK4 | |
| Renal Cancer | ||||
| 2010214 | Hereditary Renal Cancer Panel, Sequencing and Deletion/Duplication | Renal Cancer | RENCAPAN, RENCAPAN, renal, cancer, BAP1, FH, FLCN, MET, MLH1, MSH2, MSH6, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, leiomyomatosis, Mesothelioma, birt-hogg-dube, HNPCC, lynch, Cowden, Bannayan-Riley-Ruvalcaba, Proteus, Li-Fraumeni, Tuberous sclerosis, Von Hippel BAP1, FH, FLCN, MET, MLH1, MSH2, MSH6, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, Birt-Hogg-Dube, leiomyomatosis, mesothelioma, tuberous sclerosis (TS), von Hippel-Lindau | |
| 2012032 | Hereditary Cancer Panel, Sequencing and Deletion/Duplication | Renal Cancer | CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel | |
| Skin Cancer | ||||
| 3002673 | Hereditary Melanoma Panel, Sequencing and Deletion/Duplication | |||
| 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 | |
| Stickler Syndrome | ||||
| 3001613 | Stickler Syndrome Panel, Sequencing | achondrogenesis,fibrochondrogenesis,Kneist dysplasia,Legg-Calve-Perthes disease, Marshall syndrome,multiple epiphyseal dysplasia,otospondylomegaepiphyseal dysplasia,platyspondylic lethal skeletal dysplasia,spondyloepiphyseal dysplasia,spondyloperipheral dysplasia, type II collagenopathy,Wagner vitreoretinopathy,COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, VCAN | ||
| Thyroid Cancer | ||||
| 3005944 | Hereditary Thyroid Cancer Panel, Sequencing and Deletion/Duplication | |||
| Tuberous Sclerosis Complex | ||||
| 3002100 | Tuberous Sclerosis Complex Panel, Sequencing and Deletion/Duplication | TSC1, TSC2 | ||
| 3002096 | Tuberous Sclerosis Complex Panel, Sequencing and Deletion/Duplication, Fetal | TSC1, TSC2 | ||
| 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) | |
| 2009337 | Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication | Vascular Malformation Syndromes | HHT PANEL, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4 | |
| 3002286 | Cerebral Cavernous Malformation Panel, Sequencing and Deletion/Duplication | Cerebral Cavernous Malformation | Cerebral, CCM, Vascular, Malformation(s), CCM2, KRIT1, PDCD10 | |
| 3003634 | Capillary Malformation-Arteriovenous Malformation (CM-AVM) Panel, Sequencing and Deletion/Duplication | RASA1-Related Disorders, RASA1 FGA, RASA1, CM-AVM, Parkes Weber | ||
