Molecular Genetics

ARUP offers more than 70 different DNA tests which can be utilized to detect mutation carriers, diagnose genetic disorders, test at-risk fetuses, and identify patients at high risk of developing adult-onset conditions such as Huntington disease or familial cancers. In addition, full-gene analysis is available for tests such as cystic fibrosis, beta globin, and hereditary hemorrhagic telangiectasia. Once a mutation is identified in a family, family-specific mutation testing is available.

Test # Test Name Additional Information Test Keywords
2007228 5-Fluorouracil (5-FU) Toxicity and Chemotherapeutic Response, 7 Mutations 5-Fluorouracil Sensitivity 5-FU, 5-Fluorouracil Toxicity and Chemotherapeutic Response Panel, Pharmacogenetics (PGx), Colorectal Cancer
0051266 Achondroplasia (FGFR3) 2 Mutations Achondroplasia AD PCR, Skeletal Dysplasias, Neuroblastoma
0051265 Achondroplasia Mutation, Fetal Achondroplasia AD PCR FE, Skeletal Dysplasias
2006230 Alagille Syndrome (JAG1) by Targeted Sequencing and Deletion/Duplication Alagille Syndrome JAG1 FGA
0051495 Alpha Thalassemia (HBA1 & HBA2) 7 Deletions Alpha Thalassemia ALPHA THAL, Hemoglobinopathies
2001582 Alpha Globin (HBA1 and HBA2) Sequencing Alpha Thalassemia AG FGS, Hemoglobinopathies
2002398 Alport Syndrome, X-linked (COL4A5) Sequencing and Deletion/Duplication Alport Syndrome ALPORT FGA Renal disease, chronic kidney disease, hematuria
0051786 Alport Syndrome, X-linked (COL4A5) Sequencing Alport Syndrome ALPORT FGS Renal disease, chronic kidney disease, hematuria
2002394 Alport Syndrome, X-linked (COL4A5) Deletion/Duplication Alport Syndrome ALPORT DD Renal disease, chronic kidney disease, hematuria
0051710 Alport Syndrome, Adult Type (COL4A5), 3 Mutations Alport Syndrome ALPORT DNA Renal disease, chronic kidney disease, hematuria
2005077 Angelman Syndrome and Prader-Willi Syndrome by Methylation Angelman Syndrome AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments
2005564 Angelman Syndrome (UBE3A) Sequencing Angelman Syndrome UBE3A FGS
2006540 Aortopathy Panel, Sequencing and Deletion/Duplication, 10 Genes 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
2006617 Aortopathy Sequencing, 10 Genes Aortopathies AORT SEQ, Thoracic aortic aneurysms, dissections, familial thoracic TAAD AAT, ACTA2 (AAT6), FBN1, MYH11 (AAT4), MYLK (AAT7), SMAD3, TGFBR1 (AAT5), TGFBR2 (AAT3), SLC2A10, FBN2, COL3A1
2006546 Aortopathy Deletion/Duplication, 10 Genes Aortopathies AORT DD, Thoracic aortic aneurysms, dissections, familial thoracic TAAD AAT, ACTA2 (AAT6), FBN1, MYH11 (AAT4), MYLK (AAT7), SMAD3, TGFBR1 (AAT5), TGFBR2 (AAT3), SLC2A10, FBN2, COL3A1
2005584 Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication Aortopathies FBN1 FGA
2005589 Marfan Syndrome (FBN1) Sequencing Aortopathies FBN1 FGS
2005580 Marfan Syndrome (FBN1) Deletion/Duplication Aortopathies FBN1 DD
2002701 Loeys-Dietz Syndrome (TGFBR1 & TGFBR2) Sequencing & Deletion/Duplication Aortopathies LDS FGA, Loeys-Dietz, aortic aneurysm
2002705 TGFBR1 & TGFBR2 Sequencing Aortopathies LDS FGS, Loeys-Dietz, aortic aneurysm
2002697 TGFBR1 & TGFBR2 Deletion/Duplication Aortopathies LDS DELDUP, Loeys-Dietz, aortic aneurysm
—see Loeys-Dietz Syndrome Aortopathies
—see Marfan Syndrome and FBN1-Related Disorders Aortopathies
0055654 Apolipoprotein B Mutation Detection (G9775A, C9774T) Apolipoprotein B (APOB) APO B, Risk Markers - CVD (Non-traditional)
0055566 Apolipoprotein E (APOE) 2 Mutations, Cardiovascular Risk Apolipoprotein E (APOE) APO E, Risk Markers - CVD (Non-traditional)
0051415 Ashkenazi Jewish Diseases (BLM, ASPA, IKBKAP, FANCC, GBA, MCOLN1, SMPD1, HEXA) Ashkenazi Jewish Panel (8 disorders) AJP, ewish Genetic, Fanconi's, Fanconis
0040011 Fragile X (FMR1) Diagnostic Autism FRAG X, Amenorrhea, Neurocognitive Impairment, mental retardation, X-linked, developmental delay, autism, PDD, ASD, premature ovarian failure, ataxia
2002470 PTEN-Related Disorders Sequencing and Deletion/Duplication Autism PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism
0051614 Rett Syndrome (MECP2), Full Gene Analysis Autism RETT FGA, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
2005077 Angelman Syndrome and Prader-Willi Syndrome by Methylation Autism AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments
2005564 Angelman Syndrome (UBE3A) Sequencing Autism UBE3A FGS
2004935 CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication Autism CDKL5 FGA, X-linked infantile spasm
0050578 Beta Globin (HBB) Sequencing Beta Globin BGSEQ, Thalassemias, Hemoglobinopathies
0050388 Beta Globin (HBB) Sequencing, Fetal Beta Globin
0051422 Beta Globin (HBB) HbS, HbC, and HbE Mutations, Fetal Beta Globin HB SCE FE
0051700 Biotinidase Deficiency (BTD), 5 Mutations Biotinidase Deficiency BTD MUT, Multiple carboxylase
0051730 Biotinidase Deficiency (BTD) Sequencing Biotinidase Deficiency BTD FGS, Multiple carboxylase
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
0050421 RhCc Antigen (RHCE) Genotyping Blood Genotyping RH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
0050423 RhEe Antigen (RHCE) Genotyping Blood Genotyping RH E, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
0051644 Kell Antigen Genotyping (KEL1/KEL2) Blood Genotyping KEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano
2004739 Blood Group Genotyping by Microarray Blood Genotyping BLD GROUP8
0051433 Bloom Syndrome (BLM) 2281del6/ins 7 Mutation Bloom Syndrome BLM, Jewish Genetic
0051434 Bloom Syndrome (BLM) 2281del6/ins 7 Mutation, Fetal Bloom Syndrome BLM FE, Jewish Genetic
2006218 Brugada Syndrome Panel, 7 Genes Brugada Syndrome BRS PANEL
0051453 Canavan Disease (ASPA) 4 Mutations Canavan Disease ASPA, Jewish Genetic
0051454 Canavan Disease (ASPA) 4 Mutations, Fetal Canavan Disease ASPA FE, Jewish Genetic
2006216 Arrhytmogenic Right Ventricular Cardiomyopathy (ARVC) Panel, 7 Genes Cardiomyopathy ARVC PANEL, Ventricular Dysplasia
2006226 Dilated Cardiomyopathy (DCM)/Left Ventricular Noncompaction (LVNC) Panel, 27 genes Cardiomyopathy DCM PANEL, Left Ventricular Noncompaction
2006265 Hypertrophic Cardiomyopathy (HCM) Panel, 18 Genes Cardiomyopathy HCM PAN, Amyloid Cardiomyopathy, Transthyretin-Related, Amyloid Polyneuropathy, Amyloidosis, Danon Disease, Fabry, Hypertrophic
2004203 Carnitine Deficiency, Primary (SLC22A5) Sequencing and Deletion/Duplication Carnitine Deficiency PCD FGA, OCTN2, carnitine uptake
0051682 Carnitine Deficiency, Primary (SLC22A5) Sequencing Carnitine Deficiency PCD FGS, OCTN2, carnitine uptake
2004199 Carnitine Deficiency, Primary (SLC22A5) Deletion/Duplication Carnitine Deficiency PCD DELDUP, OCTN2, carnitine uptake
2001933 Cystic Fibrosis (CFTR) 32 Mutations Carrier Screening Panels CF PAN, Jewish Genetic, pregnancy screen, carrier screen, CF, mutation panel, common mutations
0051415 Ashkenazi Jewish Diseases (BLM, ASPA, IKBKAP, FANCC, GBA, MCOLN1, SMPD1, HEXA) Carrier Screening Panels AJP, ewish Genetic, Fanconi's, Fanconis
2007539 Prenatal Carrier Screening Panel, 85 Disorders Additional Technical Information
Disorder List 		Carrier Screening Panels PCS PANEL, carrier screening, Counsyl, universal screen, prenatal carrier screen, expanded carrier screen
2007541 Prenatal Carrier Screening Panel, 85 Disorders with Fragile X Disorder List Carrier Screening Panels PCS PANFGX, carrier screening, Counsyl, universal screen, prenatal carrier screen, expanded carrier screen
2007543 Expanded Carrier Screening Panel, 100-Plus Disorders Disorder List Carrier Screening Panels ECS PANEL, carrier screening, Counsyl, universal screen, prenatal carrier screen, expanded carrier screen
2007531 Expanded Carrier Screening Panel, 100-Plus Disorders with Fragile X Disorder List Carrier Screening Panels ECS PANFGX, carrier screening, Counsyl, universal screen, prenatal carrier screen, expanded carrier screen
2006224 Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel, 3 Genes Catecholaminergic Polymorphic Ventricular Tachycardia CPVT PANEL
2004935 CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication CDKL5-Related Disorders CDKL5 FGA, X-linked infantile spasm
2004931 CDKL5-Related Disorders (CDKL5) Sequencing CDKL5-Related Disorders CDKL5 FGS, X-linked infantile spasm
2004927 CDKL5-Related Disorders (CDKL5) Deletion and Duplication CDKL5-Related Disorders CDKL5 DD, X-linked infantile spasm
2005018 Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping Celiac Disease HLA CELIAC
2003152 CCM1 Sequencing Cerebral Cavernous Malformation (CCM) CCM1 FGS, Cerebral Cavernous Malformation
2003156 CCM2 Sequencing Cerebral Cavernous Malformation (CCM) CCM2 FGS, Cerebral Cavernous Malformation
2003160 CCM3 Sequencing Cerebral Cavernous Malformation (CCM) CCM3 FGS, Cerebral Cavernous Malformation
2003172 CCM1, CCM2, and CCM3 Deletion/Duplication Cerebral Cavernous Malformation (CCM) CCM DELDUP, Cerebral Cavernous Malformation
2003164 Cerebral Cavernous Malformation (CCM1) Sequencing with Reflex to (CCM1, CCM2 and CCM3) Deletion/Duplication with Reflex to (CCM2) Sequencing with Reflex to (CCM3) Sequencing Cerebral Cavernous Malformation (CCM) CCM COMP, Cerebral Cavernous Malformation
2006222 CHARGE Syndrome (CHD7) Sequencing CHARGE Syndrome CHARGE FGS
2002065 Chimerism, Recipient Pre-Transplant Chimerism STR-PRE
2002067 Chimerism, Donor Chimerism STR-DONOR
2002064 Chimerism, Post-Transplant, Sorted Cells Chimerism STR-POSTSC
2002066 Chimerism, Post-Transplant Chimerism STR-POST
2006356 Chronic Granulomatous Disease (CYBB Gene Scanning and NCF1 Exon 2 GT Deletion) with Reflex to CYBB Sequencing Chronic Granulomatous Disease CGD PANEL, Cytochrome b-Positive, Type I, NCF1 Deficiency, Niemann-Pick Disease Type A, p47-PHOX, Soluble Oxidase Component II
2006361 Chronic Granulomatous Disease, X-linked (CYBB) Gene Scanning with Reflex to Sequencing Chronic Granulomatous Disease CYBB, Cytochrome b-Positive, Type I, NCF1 Deficiency, Niemann-Pick Disease Type A, p47-PHOX, Soluble Oxidase Component II
2006366 Chronic Granulomatous Disease (NCF1) Exon 2 GT Deletion Chronic Granulomatous Disease NCF1, Cytochrome b-Positive, Type I, NCF1 Deficiency, Niemann-Pick Disease Type A, p47-PHOX, Soluble Oxidase Component II
2006261 Citrin Deficiency (SLC25A13) Sequencing Citrin Deficiency CITRIN FGS Citrin Deficiency Citrullinemia Type II Failure to Thrive and Dyslipidemia Caused by Citrin Deficiency Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency
2007069 Citrullinemia, Type I (ASS1) Sequencing Citrullinemia, Type I
2006220 Congenital Amegakaryocytic Thrombocytopenia (CAMT) Sequencing Congenital Amegakaryocytic Thrombocytopenia CAMT FGS
2001967 Cystic Fibrosis (CFTR) 32 Mutations with Reflex to Sequencing and Reflex to Deletion/Duplication Cystic Fibrosis CF COMPR, Diagnostic, CF
2001933 Cystic Fibrosis (CFTR) 32 Mutations Cystic Fibrosis CF PAN, Jewish Genetic, pregnancy screen, carrier screen, CF, mutation panel, common mutations
2001968 Cystic Fibrosis (CFTR) 32 Mutations with Reflex to Sequencing Cystic Fibrosis CF PAN-SEQ, Diagnostic, CF
0051110 Cystic Fibrosis (CFTR) Sequencing Cystic Fibrosis CF-CFTR, Diagnostic, CF
0051642 Cystic Fibrosis (CFTR) Deletion/Duplication Cystic Fibrosis CFTRDELDUP, Diagnostic, CF
0051640 Cystic Fibrosis (CFTR) Sequencing with Reflex to Deletion/Duplication Cystic Fibrosis CFTR FGA, Diagnostic, CF
2001969 Cystic Fibrosis (CFTR) 32 Mutations, Atypical Cystic Fibrosis CF PAN 5T, Male infertility, CF, 5T, mutation panel, common mutations
2001970 Cystic Fibrosis (CFTR) 32 Mutations, Fetal Cystic Fibrosis CF PAN FE, Common mutations, prenatal, amnio, amniotic fluid, CVS, chorionic villi, CF, mutation panel
0050098 Cystic Fibrosis (CFTR) 3199del6 Mutation Cystic Fibrosis CF3199DEL6, I148T, CF
0056006 Cystic Fibrosis Cis-Trans (CFTR) R117H & 5T Mutations Cystic Fibrosis CFCIS-TRAN, CF
0056003 Cystic Fibrosis (CFTR) 5T Mutation Cystic Fibrosis IVS-8, CF
0051232 Cytochrome P450 2D6 (CYP2D6) 14 Mutations and Gene Duplication Cytochrome P450 CYP 2D6, Tamoxifen, Pharmacogenetics (PGx), Schizophrenia, Breast Cancer, breast biomarkers
0051104 Cytochrome P450 2C19 (CYP2C19) 9 Mutations Cytochrome P450 CYP2C19, Pharmacogenetics (PGx), Schizophrenia, Breast Cancer, breast biomarkers
0051103 Cytochrome P450 2C9 (CYP2C9) 2 Mutations Additional Technical Information Cytochrome P450 CYP2C9, Warfarin Sensitivity, Pharmacogenetics (PGx)
2006234 Diamond-Blackfan Anemia (RPL5) Sequencing Diamond-Blackfan Anemia RPL5 FGS
2006236 Diamond-Blackfan Anemia (RPL11) Sequencing Diamond-Blackfan Anemia RPL11 FGS
2006238 Diamond-Blackfan Anemia (RPS19) Sequencing Diamond-Blackfan Anemia RPS19 FGS
2006244 Dyskeratosis Congenita, Autosomal (TERC) Sequencing Dyskeratosis Congenita TERC FGS
2006228 Dyskeratosis Congenita, X-linked (DKC1) Sequencing Dyskeratosis Congenita DKC1 FGS
0080351 Ehlers-Danlos Syndrome Type VI Screen, Urine Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form) EDS6 Ehlers-Danlos Syndrome, Kyphoscoliotic Form EDS Kyphoscoliotic Form EDS Type VI EDS VI Ehlers-Danlos Syndrome Type VI Lysyl-Hydroxylase Deficiency Ehlers-Danlos Syndrome Type VIA Nevo Syndrome PLOD1 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 EDSVI EDS6 EDS 6
2005559 Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplication Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form) EDS-VI FGA
2005555 Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Deletion/Duplication Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form) EDS-VI DD
2007535 Infantile Epilepsy Panel, Sequence Analysis and Exon-Level Deletion/Duplication, 38 Genes Additional Technical Information 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"
2007545 Childhood-Onset Epilepsy Panel, Sequencing and Deletion/Duplication, 40 Genes Additional Technical Information 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
2007547 Adolescent-Onset Epilepsy Panel, 21 Genes Additional Technical Information Epilepsy ADOL EPIL, SLC2A1, POLG, EFHC1, CACNB4, GABRA1, EPM2A, NHLRC1, EPM2B, CSTB, PRICKLE1, CHRNA4, CHRNB2, CHRNA2, LGI1, PPT1, CLN1, TPP1, CLN2, CLN3, CLN5, CLN8, CTSD, CLN10, ADSL, SYN1, Solute carrier family 2, facilitated glucose transporter member 1, DNA polymerase subunit gamma-1, EF-hand domain-containing protein 1, Voltage-dependent L-type calcium channel subunit beta-4, Gamma-aminobutyric acid receptor subunit alpha-1, Laforin, NHL repeat-containing protein 1, malin, Cystatin-B, Prickle-like protein 1, Neuronal acetylcholine receptor alpha-4, Neuronal acetylcholine receptor beta-2, Neuronal acetylcholine receptor alpha-2, Leucine-rich glioma-inactivated protein 1, Palmitoyl-protein thioesterase 1, Tripeptidyl-peptidase 1, Battenin, Ceroid-lipofuscinosis neuronal protein 5, Ceroid-lipofuscinosis neuronal protein 8, Cathepsin D, Adenylosuccinate lyase, Synapsin-1, GLUT1 deficiency, Alpers syndrome, JME, juvenile myoclonic epilepsy, seizures, progressive myoclonic epilepsy, Lafora disease, Unverricht-Lundborg disease, nocturnal frontal lobe epilepsy, ADNFLE, PPT1 deficiency, TPP1 deficiency, Juvenile NCL, Finnish late-infantile NCL, POLG-related Disorders, Autosomal Dominant Focal Epilepsies, Neuronal Ceroid Lipofuscinoses, NCL, Adenosuccinate lyase deficiency, , seizures
2007533 Progressive Myoclonic Epilepsy Panel, Sequence Analysis and Exon-Level Deletion/Duplication, 12 Genes Additional Technical Information Epilepsy PROG EPIL, seizures, PME, myoclonus, Lafora, Unverricht-Lundborg, neuronal ceroid lipofuscinoses, NCL, PRICKLE1, EPM2A, EPM2B, NHLRC1, CSTB, PPT1, CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, CLN10, TPP1, MFSD8, CTSD
2006069 Febrile Seizures Panel Epilepsy FEBRIL PAN
2005896 SCN1A-Related Seizure Disorders (SCN1A), Sequencing and Deletion/Duplication Epilepsy SCN1A COM
2005898 Protocadherin 19 (PCDH19) Sequencing Epilepsy PCDH19, seizures
2005898 Protocadherin 19 (PCDH19) Sequencing Epileptic Encephalopathy, Early Infantile, 9 (EIEE9) PCDH19, seizures
2006332 Exome Sequencing with Symptom-Guided Analysis Exome EXOME SEQ
2006336 Exome Sequencing Symptom-Guided Analysis, Patient Only Exome EXOSEQ PRO
0030192 APC Resistance Profile with Reflex to Factor V Leiden Factor V Leiden APC R, Venous thrombosis, Thromboembolism, Thrombophilia, clotting
0097720 Factor V Leiden (F5) R506Q Mutation Factor V Leiden FACV, Venous thrombosis, Thromboembolism, Thrombophilia, clotting
2001549 Factor V, R2 Mutation Factor V Leiden F5 R2, Venous thrombosis, Thromboembolism, Thrombophilia, clotting, A4070G
2003220 Factor XIII (F13A1) V34L Variant (assess thrombotic risk in Caucasians) Factor XIII (F13A1) V34L Variant FAC 13 MUT, Venous thrombosis, Thromboembolism, Thrombophilia, clotting
2004915 Familial Adenomatous Polyposis Panel: APC Sequencing, APC Deletion/Duplication, and MYH 2 Mutations Familial Adenomatous Polyposis FAP Panel, Familial Adenomatious Polyposis familial cancer, Colorectal Cancer, colon cancer, CRC, polyps, FAP, familial cancer
2004863 Familial Adenomatous Polyposis (APC) Sequencing Familial Adenomatous Polyposis APC FGS, Colorectal Cancer, colon cancer, CRC, polyps, Familial Adenomatious Polyposis FAP, familial cancer
2004920 Familial Adenomatous Polyposis (APC) Deletion and Duplication Familial Adenomatous Polyposis APC DELDUP, Colorectal Cancer, colon cancer, CRC, polyps, FAP, familial cancer
2004911 MUTYH-Associated Polyposis (MUTYH) 2 Mutations Familial Adenomatous Polyposis MYH SEQ, Hereditary Colorectal Cancer, MAP, MUTH Associated Polyposis
2006191 MUTYH-Associated Polyposis (MUTYH) Sequencing Familial Adenomatous Polyposis MUTYH, FGS, MYH
2006307 MUTYH-Associated Polyposis (MUTYH) 2 Mutations with Reflex to Sequencing Familial Adenomatous Polyposis MUTYH RFLX MYH
0051463 Dysautonomia, Familial (IKBKAP) 2 Mutations Familial Dysautonomia IKBKAP, Jewish Genetic Disease
0051464 Dysautonomia, Familial (IKBKAP) 2 Mutations, Fetal Familial Dysautonomia IKBKAP FE, Jewish, Ashkenazi, prenatal, amnio, amniotic fluid, CVS, chorionic villi
2002658 Familial Mediterranean Fever (MEFV) Sequencing Familial Mediterranean Fever (MEFV) FMF FGS, DNA
2001961 Familial Mutation, Targeted Sequencing

The following genes are available:
ACADVL, ACADM, APC, BTD, CFTR, CYP1B1, F8, F9, FBN1, GALT, GJB2, GP1BA, HBA1, HBA2, HBB, LMNA, MECP2, MEFV, MEN1, MLH1, MSH2, MSH6, MUTYH, NF1, OTC, PMS2, PRSS1, PTEN, PTPN11, RET, SDHB, SDHC, SDHD, SLC25A13, SPRED1, SOS1, TGFBR1, TGFBR2, UBE3A, VHL, VWF, ACVRL1, ASS1, BMPR1A, BMPR2, CCM1, CCM2, CCM3, CDKL5, COL4A5, ENG, G6PD, INSR, MYH3, PLOD1, RASA1, SLC22A5, SMAD4, SPINK1

 Familial Mutation Testing SEQ FSM
2001980 Familial Mutation, 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
0051468 Fanconi Anemia Group C, FANCC Gene Mutations (322delG, IVS4(+4)A>T) Fanconi Anemia Group C FANCC, Jewish, Ashkenazi, Fanconi's, Fanconis, carrier testing, DNA
0051469 Fanconi Anemia Group C, FANCC Gene Mutations, Fetal Fanconi Anemia Group C FANCC FE, Jewish, Ashkenazi, DNA, prenatal, amnio, amniotic fluid, chorionic villi, CVS, cultured cells, Fanconi's, Fanconis
2006069 Febrile Seizures Panel Febrile Seizures FEBRIL PAN
2005896 SCN1A-Related Seizure Disorders (SCN1A), Sequencing and Deletion/Duplication Febrile Seizures SCN1A COM
0051752 FG Syndrome, FGS1 (MED12) R961W Mutation FG Syndrome FGS 1, Opitz-Kaveggia, Mental retardatio, developmental delay, macrocephaly, imperforate anus
2001946 Fragile X (FMR1) Screen with Reflex to Fragile X (FMR1) Diagnostic Fragile X FRAG X SCR, Amenorrhea, Neurocognitive Impairment, mental retardation, X-linked, developmental delay, autism, PDD, ASD, premature ovarian failure, ataxia
0040011 Fragile X (FMR1) Diagnostic Fragile X FRAG X, Amenorrhea, Neurocognitive Impairment, mental retardation, X-linked, developmental delay, autism, PDD, ASD, premature ovarian failure, ataxia
0050543 Fragile X Syndrome, Fetal Fragile X FRAG X 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
2002662 Freeman-Sheldon Syndrome (MYH3) Sequencing Exon 17 Freeman-Sheldon Syndrome (MYH3) FSS SEQ, Distal Arthrogryposis Type 2A, Congenital contractures
2007163 Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing Additional Technical Information G6PD Deficiency G6PD AFRIC, Hemolytic Anemias
0051684 Glucose-6-Phosphate Dehydrogenase (G6PD), DNA Mutation, African Alleles (A376G, G202A) Additional Technical Information G6PD Deficiency G6PD AFRIC, Hemolytic Anemias
0051175 Galactosemia, (GALT) Enzyme Activity & 9 Mutations Galactosemia GALTPAN Galactosemia Classic Galactosemia Galactose-1-Phosphate Uridyltransferase Deficiency GALT Deficiency Duarte Variant Galactosemia GALT Galactose-1-phosphate uridylyltransferase
0051176 Galactosemia, (GALT) 9 Mutations Galactosemia GALTDNA, Galactosemia
2006697 GALT (Galactosemia) Sequencing Galactosemia GALT FGA, Galactosemia
0051270 Galactosemia, (GALT ) 9 Mutations, Fetal Galactosemia GALTDNA FE, Galactosemia
0051438 Gaucher Disease (GBA) 8 Mutations Gaucher Disease GBA, Jewish Genetic, Glucocerebrosidase, Glucosylceramidase
0051439 Gaucher Disease (GBA) 8 Mutations, Fetal Gaucher Disease GBA FE, Jewish Genetic, Glucocerebrosidase, Glucosylceramidase deficiency
0051476 Glaucoma (Primary Congenital), CYP1B1 Sequencing Glaucoma, Primary Congenital (CYP1B1) CYP1B1, Cytochrome P4501B1
0040116 Haptoglobin (HP) Genotyping Haptoglobin HAPTO PCR, Diabetes Mellitus, Cardiovascular risk
2001992 Hearing Loss, Nonsyndromic Panel (GJB2) Sequencing, (GJB6) 2 Deletions and Mitochondrial DNA 2 Mutations Hearing Loss HL PANEL, m.1555A>G, m.7445A>G, Connexin 26, Connexin 30
0051374 Connexin 26 (GJB2) Sequencing Hearing Loss CX26SEQ, Hearing Loss
0051383 Hearing Loss, Nonsyndromic, Connexin 26 (GJB2) 35delG Mutation Hearing Loss CX 35DELG
2002044 Hearing Loss, Nonsyndromic Mitochondrial DNA 2 Mutations Hearing Loss HL MTDNA, m.1555A>G, m.7445A>G
2001956 Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions Hearing Loss GJB6 DEL, Hearing Loss
2004686 Hemoglobin Lepore (HBD-HBB Fusion) 3 Mutations Hemoglobin Lepore LEPORE, Beta globin, delta globin, beta thalassemia, Hb Lepore-Washington-Boston, Hb Lepore-Baltimore, Hb Lepore-Hollandia
2005792 Hemoglobin Evaluation Reflexive Cascade Hemoglobinopathies HB CASCADE
0051495 Alpha Thalassemia (HBA1 & HBA2) 7 Deletions Hemoglobinopathies ALPHA THAL, Hemoglobinopathies
2001582 Alpha Globin (HBA1 and HBA2) Sequencing Hemoglobinopathies AG FGS, Hemoglobinopathies
0051421 Beta Globin (HBB) HbS, HbC, HbE Detection Hemoglobinopathies HB SCE, Sickle cell
0050578 Beta Globin (HBB) Sequencing Hemoglobinopathies BGSEQ, Thalassemias, Hemoglobinopathies
0051422 Beta Globin (HBB) HbS, HbC, and HbE Mutations, Fetal Hemoglobinopathies HB SCE FE
2004686 Hemoglobin Lepore (HBD-HBB Fusion) 3 Mutations Hemoglobinopathies LEPORE, Beta globin, delta globin, beta thalassemia, Hb Lepore-Washington-Boston, Hb Lepore-Baltimore, Hb Lepore-Hollandia
2005408 Hereditary Persistence of Fetal Hemoglobin (HPFH) 8 Mutations Hemoglobinopathies HPFH
0050610 Hemoglobin Evaluation with Reflex to Electrophoresis and/or RBC Solubility Hemoglobinopathies
0049090 Heinz Body Stain Hemoglobinopathies Unstable Hemoglobinopathies, Hemolytic Anemias
2001614 Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication Hemophilia A F8 COMP, Factor VIII, Factor 8, bleeding, classic hemophilia
2001759 Hemophilia A (F8) 2 Inversions Hemophilia A F8 INV, Factor VIII, Factor 8, bleeding, classic hemophilia
2001747 Hemophilia A (F8) Sequencing Hemophilia A F8 FGS, Factor VIII, Factor 8, bleeding, classic hemophilia
2001751 Hemophilia A (F8) Deletion/Duplication Hemophilia A F8 DELDUP, Factor VIII, Factor 8, bleeding, classic hemophilia
2001755 Hemophilia A (F8) 2 Inversions, Fetal Hemophilia A F8 INV FE, Factor VIII, Factor 8, bleeding, classic hemophilia
2001578 Hemophilia B (F9) Sequencing Hemophilia B F9 FGS, Factor IX, Factor 9, bleeding, Christmas
2001614 Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication Hemophilias F8 COMP, Factor VIII, Factor 8, bleeding, classic hemophilia
2001759 Hemophilia A (F8) 2 Inversions Hemophilias F8 INV, Factor VIII, Factor 8, bleeding, classic hemophilia
2001747 Hemophilia A (F8) Sequencing Hemophilias F8 FGS, Factor VIII, Factor 8, bleeding, classic hemophilia
2001751 Hemophilia A (F8) Deletion/Duplication Hemophilias F8 DELDUP, Factor VIII, Factor 8, bleeding, classic hemophilia
2001755 Hemophilia A (F8) 2 Inversions, Fetal Hemophilias F8 INV FE, Factor VIII, Factor 8, bleeding, classic hemophilia
2001578 Hemophilia B (F9) Sequencing Hemophilias F9 FGS, Factor IX, Factor 9, bleeding, Christmas
2005480 von Willebrand Disease, Type 2A (VWF) Sequencing Exon 28 with Reflex to 9 Exons Hemophilias VWF2A SEQ
2005494 von Willebrand Disease, Type 2N (VWF) Sequencing Hemophilias VWF2N SEQ
2005490 von Willebrand Disease, Type 2M (VWF) Sequencing Hemophilias VWF2M SEQ
2005486 von Willebrand Disease, Type 2B (VWF) Sequencing Hemophilias VWF2B SEQ
2005476 von Willebrand Disease, Platelet Type (GP1BA) 4 Mutations Hemophilias GP1BA SEQ
0055656 Hereditary Hemochromatosis Mutation Detection (C282Y, H63D, & S65C) Hereditary Hemochromatosis HFE PCR, HFE-associated hemochromatosis, HFE-HHC, iron overload
0051382 ACVRL1 and ENG Sequencing and Deletion/Duplication Hereditary Hemorrhagic Telangiectasia (HHT) HHT FGA, hereditary hemorrhagic telangiectasia
0051348 ACVRL1 and ENG Deletion/Duplication Hereditary Hemorrhagic Telangiectasia (HHT) HHT DELDUP, hereditary hemorrhagic telangiectasia
0051381 ACVRL1 and ENG Sequencing Hereditary Hemorrhagic Telangiectasia (HHT) HHT-FGS, hereditary hemorrhagic telangiectasia
2001971 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication Hereditary Hemorrhagic Telangiectasia (HHT) SMAD4 FGA, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis
0051510 Juvenile Polyposis (SMAD4) Sequencing Hereditary Hemorrhagic Telangiectasia (HHT) SMAD4 SEQ, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Myhre, Juvenile Polyposis
2001976 Juvenile Polyposis (SMAD4) Deletion/Duplication Hereditary Hemorrhagic Telangiectasia (HHT) SMAD4 DD, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis
0051650 HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication Hereditary Non-Polyposis Colon Cancer (HNPCC) MLH1 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051654 HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication Hereditary Non-Polyposis Colon Cancer (HNPCC) MSH2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051656 HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication Hereditary Non-Polyposis Colon Cancer (HNPCC) MSH6 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051737 HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication Hereditary Non-Polyposis Colon Cancer (HNPCC) PMS2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
2001728 HNPCC/Lynch Syndrome Deletion/Duplication Hereditary Non-Polyposis Colon Cancer (HNPCC) HNPCC DD, Hereditary Nonpolyposis Colorectal Cancer, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch Syndrome
2002499 MLH1 Promoter Methylation, Paraffin Hereditary Non-Polyposis Colon Cancer (HNPCC) MLH1PCR, Colorectal Cancer, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Tumor Markers
0051750 BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation Hereditary Non-Polyposis Colon Cancer (HNPCC) BRAF RFLX, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers
2007167 Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication Hereditary Paraganglioma-Pheochromocytoma Syndromes
2007108 Hereditary Paraganglioma-Pheochromocytoma (SDHB) Sequencing and Deletion/Duplication Hereditary Paraganglioma-Pheochromocytoma Syndromes
2007117 Hereditary Paraganglioma-Pheochromocytoma (SDHC) Sequencing and Deletion/Duplication Hereditary Paraganglioma-Pheochromocytoma Syndromes
2007122 Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication Hereditary Paraganglioma-Pheochromocytoma Syndromes
2007113 Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Deletion/Duplication Hereditary Paraganglioma-Pheochromocytoma Syndromes
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
0050392 Ankylosing Spondylitis (HLA-B27) Genotyping HLA-B27 (Ankylosing Spondylitis) Genotyping HLAB27 PCR, IBD
0040018 Huntington Disease (HD) Mutation with Reflex to Southern Blot Huntington Disease HD, Huntington chorea, CAG trinucleotide repeats, HTT
2006265 Hypertrophic Cardiomyopathy (HCM) Panel, 18 Genes Hypertrophic Cardiomyopathy HCM PAN, Amyloid Cardiomyopathy, Transthyretin-Related, Amyloid Polyneuropathy, Amyloidosis, Danon Disease, Fabry, Hypertrophic
0051367 Hypochondroplasia (FGFR3) 2 Mutations Hypochondroplasia HYPOCH, Skeletal Dysplasias, N540K, c.1620C>A, c.1620C>G
2007883 Filaggrin (FLG) 2 Mutations Ichthyosis Vulgaris FLG, ichthyosis vulgaris, keratosis pilaris, atopic disease, atopic dermatitis, eczema, asthma, profilaggrin, c.1501C>T, R501X, c.2282del4
2006274 Inherited Insulin Resistance Syndromes (INSR) Sequencing Additional Technical Information Insulin Resistance Syndromes INSR FGS Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans Insulin Receptor, Defect in, with Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans IRAN Type A Donohue Syndrome Insulin Receptor Defect Leprechaunism Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities Rabson-Mendenhall Syndrome
2006344 Inosine Triphosphate (ITPA) and Interleukin 28 B (IL28B)-Associated Variants, 4 SNPs Additional Technical Information Interleukin 28 B Associated SNP—Genotyping ITPA-IL28B
2004680 Interleukin 28 B (IL28B)—Associated Variants, 2SNPs Interleukin 28 B Associated SNP—Genotyping IL28B, Hepatitis C Virus (HCV), peginterferon, interferon, PEG-IFNα
2001971 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication Juvenile Polyposis SMAD4 FGA, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis
0051510 Juvenile Polyposis (SMAD4) Sequencing Juvenile Polyposis SMAD4 SEQ, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Myhre, Juvenile Polyposis
2001976 Juvenile Polyposis (SMAD4) Deletion/Duplication Juvenile Polyposis SMAD4 DD, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis
2004992 Juvenile Polyposis (BMPR1A) Sequencing and Deletion/Duplication Juvenile Polyposis BMPR1A FGA, JPS, SMAD4
2004988 Juvenile Polyposis (BMPR1A) Sequencing Juvenile Polyposis BMPR1A FGS, JPS, SMAD4, Juvenile Polyposis
2004984 Juvenile Polyposis (BMPR1A) Deletion/Duplication Juvenile Polyposis BMPR1A DD, JPS, SMAD4, Juvenile Polyposis
0051644 Kell Antigen Genotyping (KEL1/KEL2) Kell Antigen Genotyping KEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano
2002945 Legius Syndrome (SPRED1) Sequencing and (NF1) Sequencing Exon 22 (Exon 17) Legius Syndrome LS FGS, Neurofibromatosis, LS, NF 1-like
2004543 LMNA-Related Disorders (LMNA) Sequencing LMNA–Related Disorders LMNA FGS, Muscular dystrophy-related laminopathy, laminopathies, Emery-Dreifuss muscular dystrophy type 2, EDMD2, Limb Girdle muscular dystrophy 1B, LGMD1B, Hutchinson-Gilford progeria, HGPS, Charcot-Marie-Tooth 2B1, CMT2B1, Familial partial lipodystrophy Dunnigan type, FLPD, dilated cardiomyopathy, DCM, mandibulo-acral dysplasia, MAD, atypical Werner,C236 WS, restrictive dermopathy, RD
2004539 LMNA-Related Disorders (LMNA) Deletion/Duplication LMNA–Related Disorders LMNA DD, Muscular dystrophy-related laminopathy, laminopathies, Emery-Dreifuss muscular dystrophy type 2, EDMD2, Limb Girdle muscular dystrophy 1B, LGMD1B, dilated cardiomyopathy, DCM
2002701 Loeys-Dietz Syndrome (TGFBR1 & TGFBR2) Sequencing & Deletion/Duplication Loeys-Dietz Syndrome LDS FGA, Loeys-Dietz, aortic aneurysm
2002705 TGFBR1 & TGFBR2 Sequencing Loeys-Dietz Syndrome LDS FGS, Loeys-Dietz, aortic aneurysm
2002697 TGFBR1 & TGFBR2 Deletion/Duplication Loeys-Dietz Syndrome LDS DELDUP, Loeys-Dietz, aortic aneurysm
2006232 Long QT Syndrome (LQTS) Panel, 12 Genes Long QT Syndrome LQTS PANEL
0051650 HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication Lynch Syndrome MLH1 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051654 HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication Lynch Syndrome MSH2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051656 HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication Lynch Syndrome MSH6 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051737 HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication Lynch Syndrome PMS2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
2001728 HNPCC/Lynch Syndrome Deletion/Duplication Lynch Syndrome HNPCC DD, Hereditary Nonpolyposis Colorectal Cancer, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch Syndrome
2002499 MLH1 Promoter Methylation, Paraffin Lynch Syndrome MLH1PCR, Colorectal Cancer, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Tumor Markers
0051750 BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation Lynch Syndrome BRAF RFLX, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers
0049302 Mismatch Repair by Immunohistochemistry Lynch Syndrome 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 Lynch Syndrome 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 Lynch Syndrome MSI MLH1, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch
0051674 Macular Degeneration, Age-Related, DNA Variants Macular Degeneration AMD, CHF, ARMS2, Y402H, A69S
2005584 Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication Marfan Syndrome and Marfan/FBN1-Related Disorders FBN1 FGA
2005589 Marfan Syndrome (FBN1) Sequencing Marfan Syndrome and Marfan/FBN1-Related Disorders FBN1 FGS
2005580 Marfan Syndrome (FBN1) Deletion/Duplication Marfan Syndrome and Marfan/FBN1-Related Disorders FBN1 DD
0051205 Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations Medium Chain Acyl-CoA Dehydrogenase (MCAD) MCADPCR, Medium-chain acyl-coa dehydrogenase, fatty acid oxidation, MCAD deficiency, ACADM
0051758 Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) Sequencing Medium Chain Acyl-CoA Dehydrogenase (MCAD) MCAD FGS, Medium-chain acyl-coa dehydrogenase, fatty acid oxidation, MCAD Deficiency ACADM Sequencing
2007872 ATP7A-Related Copper Transport Disorders (ATP7A), Sequencing Menkes and Occipital Horn Syndromes ATP7A FGS, Menkes disease, occipital horn syndrome, X-linked cutis laxa, ATP7A-related distal motor neuropathy, MNK
0055655 Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations Methylenetetrahydrofolate Reductase (MTHFR) MTHFR PCR, Thrombophilia, methotrexate sensitivity, cardiovascular, C677T, A1298C
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
2006054 Mitochondrial Disorders Panel (mtDNA and 108 Nuclear Genes) Sequencing and Deletion/Duplication Mitochondrial Disorders MT PANEL, Mitochondrial, mitochondria, heteroplasmy, mtDNA
2006872 Mitochondrial Disorders (mtDNA) Sequencing and Deletion/Duplication Mitochondrial Disorders MT SEQDD, Mitochondrial, mitochondria, mtDNA
2006878 Mitochondrial Disorders (108 Nuclear Genes) Sequencing and Deletion/Duplication Mitochondrial Disorders MT N SQDD, , Mitochondrial, mitochondria, heteroplasmy, mtDNA
2006065 Mitochondrial Disorders (mtDNA) Sequencing Mitochondrial Disorders MT SEQ, Mitochondrial, mitochondria, mtDNA
2006050 Mitochondrial Disorders (108 Nuclear Genes) Sequencing Mitochondrial Disorders MT N SQ, Mitochondrial, mitochondria, heteroplasmy, mtDNA
2006061 Mitochondrial Genome (mtDNA and 108 Nuclear Genes) Deletion/Duplication Mitochondrial Disorders MT DD, Mitochondrial, mitochondria, heteroplasmy, mtDNA
0051755 Molar Pregnancy, 16 DNA Markers Molar Pregnancy MOL PREG, Gestational Trophoblastic Disease
0051448 Mucolipidosis IV (MCOLN1) 2 Mutations Mucolipidosis IV MCOLN1, Jewish Genetic, lysosomal
0051449 Mucolipidosis IV (MCOLN1) 2 Mutations, Fetal Mucolipidosis IV MCOL FE, Jewish Genetic, lysosomal
2005360 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication Multiple Endocrine Neoplasia Type 1 (MEN1) MEN1 FGA, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN)
2005359 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing Multiple Endocrine Neoplasia Type 1 (MEN1) MEN1 FGS, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN)
2005346 Multiple Endocrine Neoplasia Type 1 (MEN1) Deletion/Duplication Multiple Endocrine Neoplasia Type 1 (MEN1) Multiple endocrine adenomatosis, Wermer, Multiple Endocrine Neoplasias (MEN)
0051390 Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing Multiple Endocrine Neoplasia Type 2 (MEN2) MEN2 SEQ, Thyroid Cancer, Pheochromocytoma, Multiple Endocrine Neoplasias (MEN), MEN 2A, MEN 2B, familial medullary thyroid carcinoma, FMTC, RET proto-oncogene
0051492 Multiple Endocrine Neoplasia Type 2B (MEN2B), RET Gene M918T and A883F Mutations Multiple Endocrine Neoplasia Type 2 (MEN2) MEN 2 B, Thyroid Cancer, Pheochromocytoma, Multiple Endocrine Neoplasias (MEN), MEN 2A, MEN 2B, familial medullary thyroid carcinoma, FMTC, RET proto-oncogene
2005023 Narcolepsy (HLA-DQB1*06:02) Genotyping Narcolepsy NARCOLEPSY, Narcolepsy, HLA-DQB1, sleep
2007154 Neurofibromatosis Type 1 (NF1) Sequencing and Deletion/Duplication Neurofibromatosis Type 1
2007159 Neurofibromatosis Type 1 (NF1) Sequencing Neurofibromatosis Type 1
2001952 Neurofibromatosis Type 1 (NF1) Deletion/Duplication Neurofibromatosis Type 1
0051458 Niemann-Pick, Type A (SMPD1) 4 Mutations Niemann-Pick Disease Type A SMPD1, Jewish Genetic, acid sphingomyelinase, ASM, NP-A, lysosomal storage, L302P, 1bp del fsP330, R496L, R608del
0051459 Niemann-Pick, Type A (SMPD1) 4 Mutations, Fetal Niemann-Pick Disease Type A SMPD1 FE, Jewish Genetic, acid sphingomyelinase, ASM, NP-A, lysosomal storage, L302P, 1bp del fsP330, R496L, R608del
2007537 Non-Invasive Prenatal Testing for Fetal Aneuploidy Non-Invasive Prenatal Testing (Cell-Free DNA) NIPT ANEU, Panorama, NIPD, Natera, Ariosa, Sequenom, Harmony, Verinata, Maternity 21, MaterniT21, Verifi, Verify, T21, T18, T13, 45X, trisomy 21, trisomy 18, trisomy 13, turner syndrome, down syndrome, edward syndrome, patau syndrome
2004189 Noonan Syndrome PTPN11 Sequencing with Reflex to SOS1 Sequencing Noonan Syndrome NS REFLEX, Neurocognitive Impairments, NS, Leopard, Noonan-like/multiple giant-cell lesion
0051805 Noonan Syndrome (PTPN11) Sequencing Noonan Syndrome PTPN11 FGS, Neurocognitive Impairments, NS, SOS1, Leopard, Noonan-like/multiple giant-cell lesion, Metachondromatosis
2004195 Noonan Syndrome (SOS1) Sequencing Noonan Syndrome SOS1 FGS, Neurocognitive Impairments, NS, PTPN11, Leopard, Noonan-like/multiple giant-cell lesion
2005656 Ogden Syndrome (NAA10) Sequencing Exon 2 Ogden Syndrome NAA10 SEQ
2004896 Ornithine Transcarbamylase Deficiency (OTC) Sequencing and Deletion/Duplication Ornithine Transcarbamylase Deficiency OTC FGA, Urea cycle
2004901 Ornithine Transcarbamylase Deficiency (OTC) Sequencing Ornithine Transcarbamylase Deficiency OTC FGS, Urea cycle
2004892 Ornithine Transcarbamylase Deficiency (OTC) Deletion/Duplication Ornithine Transcarbamylase Deficiency OTC DELDUP, Urea cycle
2002005 Pancreatitis, Idiopathic (CFTR, PRSS1, SPINK1) Sequencing Pancreatitis IP SEQ PAN, Idiopathic pancreatitis, acute pancreatitis, R122H, N29I, N34S, hereditary pancreatitis, PRSS1 FGS, CFTR, SPINK1, Idiopathic pancreatitis, acute pancreatitis, PSTI, pancreatic secretory trypsin inhibitor
2002016 Pancreatitis, Hereditary (PRSS1) Sequencing Pancreatitis PRSS1 FGS, Idiopathic pancreatitis, acute pancreatitis, R122H, N29I
2002012 Pancreatitis, Idiopathic (SPINK1) Sequencing Pancreatitis SPINK1 FGS, Idiopathic pancreatitis, acute pancreatitis, N34S, PSTI, pancreatic secretory trypsin inhibitor
2007370 Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication, 7 Genes Periodic Fever Syndromes 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
2007376 Periodic Fever Syndromes Sequencing, 7 Genes Periodic Fever Syndromes 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
2007366 Periodic Fever Syndromes Deletion/Duplication, 7 Genes Periodic Fever Syndromes 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
2002658 Familial Mediterranean Fever (MEFV) Sequencing Periodic Fever Syndromes FMF FGS, DNA
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
0051308 Platelet Antigen Genotyping Panel Platelet Antigen Genotyping HPA PAN, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051309 Platelet Antigen 1 Genotyping (HPA-1) Platelet Antigen Genotyping HPA1, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051310 Platelet Antigen 2 Genotyping (HPA-2) Platelet Antigen Genotyping HPA2, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051311 Platelet Antigen 3 Genotyping (HPA-3) Platelet Antigen Genotyping HPA3, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051490 Platelet Antigen 4 Genotyping (HPA-4) Platelet Antigen Genotyping HPA4, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051312 Platelet Antigen 5 Genotyping (HPA-5) Platelet Antigen Genotyping HPA5, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051313 Platelet Antigen 6 Genotyping (HPA-6) Platelet Antigen Genotyping HPA6, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051314 Platelet Antigen 15 Genotyping (HPA-15) Platelet Antigen Genotyping HPA15, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
2005077 Angelman Syndrome and Prader-Willi Syndrome by Methylation Prader-Willi Syndrome AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments
0056060 Prothrombin Nucleotide 20210 G/A Gene Mutation (Factor II) Prothrombin (Factor II) PT PCR, F2, G20210A, thrombosis, plasma prothrombin, thrombophilia, clotting
2002470 PTEN-Related Disorders Sequencing and Deletion/Duplication PTEN-Related Disorders PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism
2002722 PTEN-Related Disorders Sequencing PTEN-Related Disorders PTEN FGS, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism
2002726 PTEN-Related Disorders Deletion/Duplication PTEN-Related Disorders PTENDELDUP, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism
2003405 Pulmonary Arterial Hypertension (BMPR2) Sequencing and Deletion/Duplication Pulmonary Arterial Hypertension, BMPR2-Related BMPR2 FGA, PAH, familial pulmonary arterial hypertension, idiopathic pulmonary arterial hypertension, BMPR2-related PAH
2003410 Pulmonary Arterial Hypertension (BMPR2) Sequencing Pulmonary Arterial Hypertension, BMPR2-Related BMPR2 FGS, PAH, familial pulmonary arterial hypertension, idiopathic pulmonary arterial hypertension, BMPR2-related PAH
2003401 Pulmonary Arterial Hypertension (BMPR2) Deletion/Duplication Pulmonary Arterial Hypertension, BMPR2-Related BMPR2 DD, PAH, familial pulmonary arterial hypertension, idiopathic pulmonary arterial hypertension, BMPR2-related PAH
2007852 RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication RASA1-Related Disorders RASA1 FGA, RASA1, CM-AVM, Parkes Weber
2002730 RASA1-Related Disorders (RASA1) Sequencing RASA1-Related Disorders RASA1 FGS, Capillary-ateriovenous malformations, vascular malformations, CM, port-wine stain, arteriovenous malformations, AVM, CM-AVM, Parkes-Weber, PKWS
2007830 RASA1-Related Disorders (RASA1) Deletion/Duplication RASA1-Related Disorders RASA1 DD, RASA1, CM-AVM, Parkes Weber
2007085 Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication, 53 Genes Retinitis Pigmentosa/Leber Congenital Amaurosis RP, LCA, Stargardt disease, cone-rod dystrophy, retinopathy, Nephronophthisis, Coats-like vasculopathy, preserved para-arteriolar RPE (PPRPE), S-cone syndrome, adult vitelliform MD, Peripapillary atrophy, macular atrophy, Oguchi, ABCA4, AIPL1 ,BEST1 ,C2ORF71 ,CA4 ,CDHR1 ,CEP290 ,CERKL ,CNGA1 ,CNGB1 ,CRB1 ,CRX ,DHDDS ,EYS ,FSCN2 ,GUCA1B ,GUCY2D ,IDH3B ,IMPDH1 ,KLHL7 ,LCA5 ,LRAT ,MERTK ,NR2RR3 ,NRL ,PDE6A ,PDE6B ,PRCD ,PROM1 ,PRPF3 ,PRPF31 ,PRPF8 ,RD3 ,RDH12 ,RDS ,RGR ,RHO ,RLBP1 ,ROM1 ,RP1 ,RP2 ,RP9 ,RPE65 ,RPGR ,RPGRIP1 ,SAG ,SEMA4A ,SNPNP200 ,SPATA7 ,TOPORS ,TTC8 ,TULP1 ,USH2A
2007091 Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing, 53 Genes Retinitis Pigmentosa/Leber Congenital Amaurosis RP, LCA, Stargardt disease, cone-rod dystrophy, retinopathy, Nephronophthisis, Coats-like vasculopathy, preserved para-arteriolar RPE (PPRPE), S-cone syndrome, adult vitelliform MD, Peripapillary atrophy, macular atrophy, Oguchi, ABCA4, AIPL1 ,BEST1 ,C2ORF71 ,CA4 ,CDHR1 ,CEP290 ,CERKL ,CNGA1 ,CNGB1 ,CRB1 ,CRX ,DHDDS ,EYS ,FSCN2 ,GUCA1B ,GUCY2D ,IDH3B ,IMPDH1 ,KLHL7 ,LCA5 ,LRAT ,MERTK ,NR2RR3 ,NRL ,PDE6A ,PDE6B ,PRCD ,PROM1 ,PRPF3 ,PRPF31 ,PRPF8 ,RD3 ,RDH12 ,RDS ,RGR ,RHO ,RLBP1 ,ROM1 ,RP1 ,RP2 ,RP9 ,RPE65 ,RPGR ,RPGRIP1 ,SAG ,SEMA4A ,SNPNP200 ,SPATA7 ,TOPORS ,TTC8 ,TULP1 ,USH2A
2007095 Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Deletion/Duplication, 53 Genes Retinitis Pigmentosa/Leber Congenital Amaurosis RP, LCA, Stargardt disease, cone-rod dystrophy, retinopathy, Nephronophthisis, Coats-like vasculopathy, preserved para-arteriolar RPE (PPRPE), S-cone syndrome, adult vitelliform MD, Peripapillary atrophy, macular atrophy, Oguchi, ABCA4, AIPL1 ,BEST1 ,C2ORF71 ,CA4 ,CDHR1 ,CEP290 ,CERKL ,CNGA1 ,CNGB1 ,CRB1 ,CRX ,DHDDS ,EYS ,FSCN2 ,GUCA1B ,GUCY2D ,IDH3B ,IMPDH1 ,KLHL7 ,LCA5 ,LRAT ,MERTK ,NR2RR3 ,NRL ,PDE6A ,PDE6B ,PRCD ,PROM1 ,PRPF3 ,PRPF31 ,PRPF8 ,RD3 ,RDH12 ,RDS ,RGR ,RHO ,RLBP1 ,ROM1 ,RP1 ,RP2 ,RP9 ,RPE65 ,RPGR ,RPGRIP1 ,SAG ,SEMA4A ,SNPNP200 ,SPATA7 ,TOPORS ,TTC8 ,TULP1 ,USH2A
0051614 Rett Syndrome (MECP2), Full Gene Analysis Rett Syndrome RETT FGA, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
0051378 Rett Syndrome (MECP2), Full Gene Sequencing Rett Syndrome RETT FGS, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
0051618 Rett Syndrome (MECP2), Deletion/Duplication Rett Syndrome RETTDELDUP, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
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
0050421 RhCc Antigen (RHCE) Genotyping Rh Genotyping RH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
0050423 RhEe Antigen (RHCE) Genotyping Rh Genotyping RH E, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
2006240 Schwachman-Diamond Syndrome (SBDS) Sequencing Schwachman-Diamond Syndrome SBDS FGS
2006242 Short QT Syndrome Panel, 3 Genes Short QT Syndrome SQTS PANEL
0051421 Beta Globin (HBB) HbS, HbC, HbE Detection Sickle Cell Anemia HB SCE, Sickle cell
0051422 Beta Globin (HBB) HbS, HbC, and HbE Mutations, Fetal Sickle Cell Anemia HB SCE FE
2007569 TACI-Associated Common Variable Immunodeficiency (TNFRSF13B) Sequencing TACI-Associated Common Variable Immunodeficiency TACI FGS, CVID/CVID2; Immunoglobulin A (IgA) deficiency; Selective IgA deficiency-2 (IGAD2); Tumor necrosis factor receptor superfamily, member 13B; Antibody deficiency due to TACI defect; Hypogammaglobulinemia due to TACI deficiency
0051428 Tay-Sachs (HEXA) 7 Mutations 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
0051429 Tay-Sachs (HEXA) 7 Mutations, Fetal Tay-Sachs Disease HEXA FE, Jewish Genetic, Hex A, GM2 gangliosidosis, hexosaminidase, lysosomal storage, delta 7.6kb, IVS9(+1)G>A, 1278insTATC, IVS12(+1)G>C, G269S, R247W, R249W
0051506 Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations Thanatophoric Dysplasia TD PAN, Skeletal Dysplasias, thanatophoric dysplasia, TD1, TD2, R248C, S249C, G370C, S371C, Y373C, K650E, X807G, X807R, X807S, X807L, X807C, X807W, dwarfism
0051508 Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations, Fetal Thanatophoric Dysplasia TD PAN FE, Skeletal Dysplasias, thanatophoric dysplasia, TD1, TD2, R248C, S249C, G370C, S371C, Y373C, K650E, X807G, X807R, X807S, X807L, X807C, X807W, dwarfism
0030133 Thrombotic Risk, Inherited Etiologies (Most Common) with Reflex to Factor V Leiden Thrombotic Risk THROM COM, Venous thrombosis, Thromboembolism, Thrombophilia, Factor V Leiden, F5, R506Q, F2, G20210A, thrombosis, plasma prothrombin, clotting
0056200 Thrombotic Risk, DNA Panel (FVL, Factor II, MTHFR) Thrombotic Risk THROMDNA, Thrombophilia, cardiovascular, C677T, A1298C, F2, G20210A, thrombosis, plasma prothrombin, Factor V Leiden, F5, R506Q, methylenetetrahydrofolate reductase, venous thrombosis, thromboembolism, clotting
0050547 Twin Zygosity (16 markers) Twin Zygosity Testing TWIN ZYG, Fetal zygosity, mono/dizygotic differentiation
0051332 UDP Glucuronosyltransferase 1A1 (UGT1A1) Genotyping UGT1A1 Genotyping UGT1A1, Irinotecan, Pharmacogenetics (PGx), Colorectal Cancer
2007384 Vascular Malformations Panel, Sequencing and Deletion/Duplication, 10 Genes 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
2007390 Vascular Malformations Sequencing, 10 Genes Vascular Malformation Syndromes VACS SEQ, 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
2007380 Vascular Malformations Deletion/Duplication, 10 Genes Vascular Malformation Syndromes VASC DD, 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
0051382 ACVRL1 and ENG Sequencing and Deletion/Duplication Vascular Malformation Syndromes HHT FGA, hereditary hemorrhagic telangiectasia
0051348 ACVRL1 and ENG Deletion/Duplication Vascular Malformation Syndromes HHT DELDUP, hereditary hemorrhagic telangiectasia
0051381 ACVRL1 and ENG Sequencing Vascular Malformation Syndromes HHT-FGS, hereditary hemorrhagic telangiectasia
2007852 RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication Vascular Malformation Syndromes RASA1 FGA, RASA1, CM-AVM, Parkes Weber
2002730 RASA1-Related Disorders (RASA1) Sequencing Vascular Malformation Syndromes RASA1 FGS, Capillary-ateriovenous malformations, vascular malformations, CM, port-wine stain, arteriovenous malformations, AVM, CM-AVM, Parkes-Weber, PKWS
2007830 RASA1-Related Disorders (RASA1) Deletion/Duplication Vascular Malformation Syndromes RASA1 DD, RASA1, CM-AVM, Parkes Weber
2003152 CCM1 Sequencing Vascular Malformation Syndromes CCM1 FGS, Cerebral Cavernous Malformation
2003156 CCM2 Sequencing Vascular Malformation Syndromes CCM2 FGS, Cerebral Cavernous Malformation
2003160 CCM3 Sequencing Vascular Malformation Syndromes CCM3 FGS, Cerebral Cavernous Malformation
2003172 CCM1, CCM2, and CCM3 Deletion/Duplication Vascular Malformation Syndromes CCM DELDUP, Cerebral Cavernous Malformation
2003164 Cerebral Cavernous Malformation (CCM1) Sequencing with Reflex to (CCM1, CCM2 and CCM3) Deletion/Duplication with Reflex to (CCM2) Sequencing with Reflex to (CCM3) Sequencing Vascular Malformation Syndromes CCM COMP, Cerebral Cavernous Malformation
—see Cerebral Cavernous Malformation (CCM) Vascular Malformation Syndromes
—see Hereditary Hemorrhagic Telangiectasia (HHT) Vascular Malformation Syndromes
—see RASA1-Related Disorders Vascular Malformation Syndromes
2004212 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing and Deletion/Duplication Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) VLCAD FGA
2002001 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) VLCAD FGS
2004208 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Deletion/Duplication Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) VLCAD DD
2002965 Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication Von Hippel-Lindau/Congenital Polycythemia VHL FGA, Brain Tumors, Pheochromocytoma
2002970 Von Hippel-Lindau (VHL) Sequencing Von Hippel-Lindau/Congenital Polycythemia VHL FGS, Congenital polycythemia
2002988 Von Hippel-Lindau (VHL) Deletion/Duplication Von Hippel-Lindau/Congenital Polycythemia VHL DELDUP, Brain Tumors, Pheochromocytoma
2005480 von Willebrand Disease, Type 2A (VWF) Sequencing Exon 28 with Reflex to 9 Exons von Willebrand Disease VWF2A SEQ
2005494 von Willebrand Disease, Type 2N (VWF) Sequencing von Willebrand Disease VWF2N SEQ
2005490 von Willebrand Disease, Type 2M (VWF) Sequencing von Willebrand Disease VWF2M SEQ
2005486 von Willebrand Disease, Type 2B (VWF) Sequencing von Willebrand Disease VWF2B SEQ
2005476 von Willebrand Disease, Platelet Type (GP1BA) 4 Mutations von Willebrand Disease GP1BA SEQ
2004358 Warfarin Genotyping Plus Warfarin Genotyping WARF PLUS
0051370 Warfarin Sensitivity (CYP2C9 & VKORC1 ) 3 Mutations Warfarin Genotyping WARF GENO, Warfarin metabolism, Coumadin, Pharmacogenetics (PGx), cytochrome P450 2C9, CYP2C9*2, CYP2C9*3, c.-1639G>A
2006352 X-Chromosome Inactivation Analysis Additional Technical Information X-Chromosome Inactivation XCI
2001778 Y Chromosome Microdeletion Y Chromosome Microdeletion Y CHROM, Male Infertility, PCR