Genomics

ARUP Genetics offers genomic services including exome sequencing, next-generation sequencing, and microarray. Exome sequencing may determine the etiology of rare diseases in individuals where a specific diagnosis or cause remains elusive. Next-generation sequencing panels allow investigation of multiple genes simultaneously in situations where there is phenotypic overlap across disorders. Microarray analysis identifies unbalanced chromosomal abnormalities in patients with unexplained abnormal phenotypes such as intellectual disability, dysmorphic features, congenital anomalies, and autism.

Test # Test Name Additional Information Test Keywords
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
2003414 Cytogenomic SNP Microarray Autism CMA SNP, array, CGH, aCGH, CNV, mental retardation, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy
2006267 Cytogenomic SNP Microarray Buccal Swab Autism CMA BUCCAL, CMA SNP, array, CGH, aCGH, CNV, mental retardation, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy, cheek swab
2004434 X Chromosome Ultra-High Density Microarray, 954 Genes Autism X ARRAY, Neurocognitive Impairments, X-linked, mental retardation, pervasive developmental delay, seizures, x chromosome, MR, ID, DD, autism, ASD, PDD
2006332 Exome Sequencing with Symptom-Guided Analysis Exome EXOME SEQ
2006336 Exome Sequencing Symptom-Guided Analysis, Patient Only Exome EXOSEQ PRO
2003414 Cytogenomic SNP Microarray Genomic Microarray CMA SNP, array, CGH, aCGH, CNV, mental retardation, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy
2006267 Cytogenomic SNP Microarray Buccal Swab Genomic Microarray CMA BUCCAL, CMA SNP, array, CGH, aCGH, CNV, mental retardation, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy, cheek swab
2002366 Cytogenomic SNP Microarray—Fetal Genomic Microarray ARRAY FE, array, CGH, aCGH, CNV, ultrasound anomalies, birth defects, amnio, amniotic fluid, CVS, villi, cultured cells
2006325 Cytogenomic SNP Microarray—Oncology Additional Technical Information Genomic Microarray CMA ONC ALL, Bcell, B-cell, b cell, T-cell, Tcell, T Cell, B-ALL, CDKN2A/B, BTG1, IKZF1, EBF1, UPD 9p, Myelodysplastic, MDS, Myeloproliferative, MPD, 5q-; -7 or 7q-,+8; 20q-, LOH, UPD 7q, UPD 11q, UPD 17p, CLL, P53, Chronic lymphocytic leukemia
2005633 Genomic SNP Microarray, Products of Conception Genomic Microarray ARRAY POC, conception, amnio, amniotic fluid, CVS, villi, cultured cells
2004434 X Chromosome Ultra-High Density Microarray, 954 Genes Genomic Microarray X ARRAY, Neurocognitive Impairments, X-linked, mental retardation, pervasive developmental delay, seizures, x chromosome, MR, ID, DD, autism, ASD, PDD
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
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
2006325 Cytogenomic SNP Microarray—Oncology Additional Technical Information Oncology Studies, Microarray CMA ONC ALL, Bcell, B-cell, b cell, T-cell, Tcell, T Cell, B-ALL, CDKN2A/B, BTG1, IKZF1, EBF1, UPD 9p, Myelodysplastic, MDS, Myeloproliferative, MPD, 5q-; -7 or 7q-,+8; 20q-, LOH, UPD 7q, UPD 11q, UPD 17p, CLL, P53, Chronic lymphocytic leukemia
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
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
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