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.

Please click on the test code or test name to obtain a link to the Patient History Form for the desired test.

Test # Test Name Additional Information Test Keywords
2011151 Agammaglobulinemia Panel, Sequencing (9 Genes) and Deletion/Duplication (6 Genes) Agammaglobulinemia AGG PANEL, BLNK, BTK, CD79A, CD79B, IGHM, IGLL1, LRRC8A, PIK3R1, SH2D1A, hypogammaglobulinemia, panhypogammaglobulinemia, B cell deficiency
2011152 Amyotrophic Lateral Sclerosis (ALS) Panel, Sequencing and Deletion/Duplication, 11 Genes Amyotrophic Lateral Sclerosis ALS PANEL, ALS2, ANG, FIG4, FUS, OPTN, SETX, SOD1, TARDBP, UBQLN2, VAPB, VCP
2006540 Aortopathy Panel, Sequencing and Deletion/Duplication, 21 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 ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, MYLK, PLOD1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2
2006617 Aortopathy Sequencing, 21 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 ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, MYLK, PLOD1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2
2006546 Aortopathy Deletion/Duplication, 21 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 ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, MYLK, PLOD1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2
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, intellectual disability, developmental disability, IDD, ID
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, intellectual disability, developmental disability, IDD, ID
2010225 X-Linked Intellectual Disability Panel, Sequencing, 76 Genes Autism XLID SEQ, XLID, X-linked intellectual disability, ABCD1, ACSL4/FACL4, AFF2/FRAXE, AP1S2, ARHGEF9, ARX, ATP7A, ATRX, BCOR, BRWD3, CASK, CDKL5, CUL4B, DCX, DKC1, DLG3, DMD, FGD1, FLNA, FMR1, FTSJ1, GDI1, GK, GPC3, GRIA3, HCCS, HCFC1, HPRT1, HSD17B10, HUWE1, IDS, IL1RAPL1, IQSEC2, KDM5C, L1CAM, LAMP2, MBTPS2, MECP2, MED12, MID1, NDP, NDUFA1, NHS, NLGN4X, NSDHL, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RPS6KA3/RSK2, SLC16A2/MCT8, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SYN1, SYP, TIMM8A, TSPAN7, UBE2A, UPF3B, ZDHHC9, ZNF711
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, intellectual disability, developmental disability, IDD
2012026 Breast and Ovarian Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 20 Genes 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
2012032 Cancer Panel, Hereditary, Sequencing and Deletion/Duplication, 47 Genes Cancer, Hereditary CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel
2010757 Cancer Panel, Hereditary, Deletion/Duplication, 46 Genes Cancer, Hereditary CANCER DD, ALK, APC, BAP1, BMPR1A, CDH1, CDK4, CDKN1B, CDKN2A, EPCAM, FH, FLCN, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUYTH, NF2, PHOX2B, PTEN, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, 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
2010183 Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes) 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)
2009323 Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) Cardiomyopathy CARDIACSEQ, 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)
2010760 Cardiomyopathy and Arrhythmia Deletion/Duplication, 83 Genes Cardiomyopathy ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNB2, CASQ2, CAV3, CORIN, COX15, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, 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, 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)
2010188 Central Nervous System Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 15 Genes Central Nervous System Cancer CNSCAPAN, ALK, APC, BAP1, MLH1, MSH2, MSH6, NF2, PHOX2B, PTEN, RB1, SMARCB1, STK11, SUFU, TP53, and VHL, CNS cancer, brain cancer , central nervous system cancer, CNS tumor, brain tumor, glioblastoma, neuroblastoma, meningiomas, pituitary adenoma, medulloblastoma, neuroectodermal, hemangioblastoma, pinealoblastoma, ependymoma, vestibular schwannoma ALK, APC, BAP1, MLH1, MSH2, MSH6, NF2, PHOX2B, PTEN, RB1, SMARCB1, STK11, SUFU, TP53, VHL, CNS tumor, ependymoma, glioblastoma, hemangioblastoma, medulloblastoma, meningiomas, neuroectodermal, pinealoblastoma, pituitary adenoma, vestibular schwannoma
2012032 Cancer Panel, Hereditary, Sequencing and Deletion/Duplication, 47 Genes Central Nervous System Cancer CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel
2010757 Cancer Panel, Hereditary, Deletion/Duplication, 46 Genes Central Nervous System Cancer CANCER DD, ALK, APC, BAP1, BMPR1A, CDH1, CDK4, CDKN1B, CDKN2A, EPCAM, FH, FLCN, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUYTH, NF2, PHOX2B, PTEN, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, 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
2009326 Cerebral Cavernous Malformation (CCM) Panel, Sequencing and Deletion/Duplication, 3 Genes Cerebral Cavernous Malformation (CCM) CCM PANEL, Cerebral Cavernous Malformation, CCM1/KRIT1, CCM2, CCM3/PDCD10
2009331 Cerebral Cavernous Malformation (CCM) Sequencing, 3 Genes Cerebral Cavernous Malformation (CCM) CCM SEQ, Cerebral Cavernous Malformation, CCM1/KRIT1, CCM2, CCM3/PDCD10
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
2011157 Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing (25 Genes) and Deletion/Duplication (24 Genes) 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
2010193 Endocrine Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 13 Genes Endocrine Cancer ENDOCAPAN, CDKN1B, MAX, MEN1, PTEN, RET, SDHAF2, SDHB, SDHC, SDHD, STK11, TMEM127, TP53, VHL, endocrine cancer, pheochromocytoma, paraganglioma, follicular thyroid cancer, cribiform-morular variant, pituitary adenoma, gastric carcinorid tumor, primary hyperparathyroidism, adrenocortical adenoma,medullary thyroid carcinoma CDKN1B, MAX, MEN1, PTEN, RET, SDHAF2, SDHB, SDHC, SDHD, STK11, TMEM127, TP53, VHL, adrenocortical adenoma, cribiform-morular variant, follicular thyroid cancer, gastric carcinorid tumor, medullary thyroid carcinoma (MTC), pituitary adenoma, primary hyperparathyroidism
2012032 Cancer Panel, Hereditary, Sequencing and Deletion/Duplication, 47 Genes Endocrine 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
2010757 Cancer Panel, Hereditary, Deletion/Duplication, 46 Genes Endocrine Cancer CANCER DD, ALK, APC, BAP1, BMPR1A, CDH1, CDK4, CDKN1B, CDKN2A, EPCAM, FH, FLCN, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUYTH, NF2, PHOX2B, PTEN, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, 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
2006332 Exome Sequencing with Symptom-Guided Analysis Exome EXOME SEQ
2006336 Exome Sequencing Symptom-Guided Analysis, Patient Only Exome EXOSEQ PRO
2013449 Gastrointestinal Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 16 Genes Gastrointestinal Cancer GICAPAN, 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 Cancer Panel, Hereditary, Sequencing and Deletion/Duplication, 47 Genes 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
2010757 Cancer Panel, Hereditary, Deletion/Duplication, 46 Genes Gastrointestinal Cancer CANCER DD, ALK, APC, BAP1, BMPR1A, CDH1, CDK4, CDKN1B, CDKN2A, EPCAM, FH, FLCN, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUYTH, NF2, PHOX2B, PTEN, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, 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
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, intellectual disability, developmental disability, IDD, ID
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, intellectual disability, developmental disability, IDD, ID
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, intellectual disability, developmental disability, IDD
2008803 Expanded Hearing Loss Panel, Sequencing (56 Genes) and Deletion/Duplication (53 Genes) Hearing Loss EHL PANEL, hearing loss, nonsyndromic, syndromic, nonsyndromic hearing loss, syndromic hearing loss, ACTG1, CCDC50, CDH23, CEACAM16, CLDN14, CLRN1, COCH, COL11A2, CRYM, DFNA5, DFNB31, PJVK, DIAPH1, DNMT1, DSPP, ESPN, ESRRB, EYA4, GJB2, Connexin 26, Connexin, GJB3, GJB6, Connexin 30, GPR98, GPSM2, GRHL2, HARS2, HSD17B4, KCNQ4, LHFPL5, MARVELD2, MASP1, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, OTOA, OTOF, PCDH15, POU4F3, RDX, SLC26A4, SLC26A5, SMPX, STRC, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, USH1G, USH2A, WFS1, Usher, deafness, deaf, 3MC, Wolfram ACTG1, CCDC50, CDH23, CEACAM16, CLDN14, CLRN1, COCH, COL11A2, CRYM, DFNA5, DFNB31, DIAPH1, DNMT1, DSPP, ESRRB, EYA4, GJB2, GJB3, GJB6, GPR98, GPSM2, GRHL2, HARS2, HSD17B4, KCNQ4, LHFPL5, MARVELD2, MASP1, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, OTOF, PCDH15, PJVK, POU4F3, RDX, SLC26A4, SLC26A5, SMPX, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, USH1G, USH2A, WFS1, Connexin 26, Connexin 30, Usher, Wolfram, 3MC
2008800 Expanded Hearing Loss Panel, Sequencing (56 Genes) Hearing Loss EHL SEQ, hearing loss, nonsyndromic, syndromic, nonsyndromic hearing loss, syndromic hearing loss, ACTG1, CCDC50, CDH23, CEACAM16, CLDN14, CLRN1, COCH, COL11A2, CRYM, DFNA5, DFNB31, PJVK, DIAPH1, DNMT1, DSPP, ESPN, ESRRB, EYA4, GJB2, Connexin 26, Connexin, GJB3, GJB6, Connexin 30, GPR98, GPSM2, GRHL2, HARS2, HSD17B4, KCNQ4, LHFPL5, MARVELD2, MASP1, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, OTOA, OTOF, PCDH15, POU4F3, RDX, SLC26A4, SLC26A5, SMPX, STRC, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, USH1G, USH2A, WFS1, Usher, deafness, deaf, 3MC, Wolfram ACTG1, CCDC50, CDH23, CEACAM16, CLDN14, CLRN1, COCH, COL11A2, CRYM, DFNA5, DFNB31, DIAPH1, DNMT1, DSPP, ESRRB, EYA4, GJB2, GJB3, GJB6, GPR98, GPSM2, GRHL2, HARS2, HSD17B4, KCNQ4, LHFPL5, MARVELD2, MASP1, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, OTOF, PCDH15, PJVK, POU4F3, RDX, SLC26A4, SLC26A5, SMPX, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, USH1G, USH2A, WFS1, Connexin 26, Connexin 30, Usher, Wolfram, 3MC
2008808 Expanded Hearing Loss Panel, Deletion/Duplication (53 Genes) Hearing Loss EHL DD, hearing loss, nonsyndromic, syndromic, nonsyndromic hearing loss, syndromic hearing loss, ACTG1, CCDC50, CDH23, CEACAM16, CLDN14, CLRN1, COCH, COL11A2, CRYM, DFNA5, DFNB31, PJVK, DIAPH1, DNMT1, DSPP, ESPN, ESRRB, EYA4, GJB2, Connexin 26, Connexin, GJB3, GJB6, Connexin 30, GPR98, GPSM2, GRHL2, HARS2, HSD17B4, KCNQ4, LHFPL5, MARVELD2, MASP1, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, OTOA, OTOF, PCDH15, POU4F3, RDX, SLC26A4, SLC26A5, SMPX, STRC, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, USH1G, USH2A, WFS1, Usher, deafness, deaf, 3MC, Wolfram ACTG1, CCDC50, CDH23, CEACAM16, CLDN14, CLRN1, COCH, COL11A2, CRYM, DFNA5, DFNB31, DIAPH1, DNMT1, DSPP, ESRRB, EYA4, GJB2, GJB3, GJB6, GPR98, GPSM2, GRHL2, HARS2, HSD17B4, KCNQ4, LHFPL5, MARVELD2, MASP1, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, OTOF, PCDH15, PJVK, POU4F3, RDX, SLC26A4, SLC26A5, SMPX, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, USH1G, USH2A, WFS1, Connexin 26, Connexin 30, Usher, Wolfram, 3MC
2009337 Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication, 5 Genes Hereditary Hemorrhagic Telangiectasia (HHT) HHT PANEL, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4
2009342 Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing, 5 Genes Hereditary Hemorrhagic Telangiectasia (HHT) HHT SEQ, hereditary hemorrhagic telangiectasia, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4
2008863 Holoprosencephaly Panel, Nonsyndromic, Sequencing and Deletion/Duplication, 11 Genes, Fetal Holoprosencephaly HPE PAN FE, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2
2008848 Holoprosencephaly Panel, Nonsyndromic, Sequencing and Deletion/Duplication, 11 Genes Holoprosencephaly HPE PAN, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2
2008853 Holoprosencephaly Panel, Nonsyndromic, Sequencing, 11 Genes Holoprosencephaly HPE SEQ, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2
2008845 Holoprosencephaly, Nonsyndromic, Deletion/Duplication, 11 Genes Holoprosencephaly HPE DD, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, and ZIC2
2011154 Hyper IgM Syndrome Panel, Sequencing (12 Genes) and Deletion/Duplication (10 Genes) Hyper IgM Syndrome HIGM PANEL, AICDA, ATM, BTK, CD40, CD40LG, IKBKG, MRE11A, NBN/NBS1, NFKBIA, PIK3CD, RAG2, UNG, HIGM syndrome, HIGM1, HIGM2, HIGM3, HIGM4, HIGM5, immunoglobulin class-switch deficiency
2010203 Hypohidrotic Ectodermal Dysplasia Panel, Sequencing and Deletion/Duplication, 4 Genes Hypohidrotic Ectodermal Dysplasia HED PANEL, HED, hypohidrotic, ectodermal, dysplasia, EDA, EDAR, EDARADD, IKBKG, NEMO, HED-ID, hypotrichosis, hypodontia, hypohidrosis
2010766 Hypohidrotic Ectodermal Dysplasia Panel, Sequencing, 4 Genes Hypohidrotic Ectodermal Dysplasia HED, hypohidrotic, ectodermal, dysplasia, EDA, EDAR, EDARADD, IKBKG, NEMO, HED-ID, hypotrichosis, hypodontia, hypohidrosis
2010763 Hypohidrotic Ectodermal Dysplasia Deletion/Duplication, 3 Genes Hypohidrotic Ectodermal Dysplasia HED, hypohidrotic, ectodermal, dysplasia, EDA, EDAR, EDARADD, HED-ID, hypotrichosis, hypodontia, hypohidrosis
2008831 Metabolic Storage Disorders Panel, Sequencing, 51 Genes Metabolic Storage Disorders STORAGESEQ, AGA, AGL, ARSA, ARSB, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, DNAJC5, ENO3, G6PC, GAA, GALC, GALNS, GBA, GBE1, GLA, GLB1, GM2A, GNPTAB, GNS, GUSB, GYS1, GYS2, HGSNAT, HYAL1, IDS, IDUA, LDHA, LIPA, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PFKM, PPT1, PYGL, PYGM, SGSH, SLC17A5, SLC37A4, SMPD1, SUMF1, TPP1, glycogenoses, lipidoses, mucopolysaccharidoses, lysosomal transport disorders, oligosaccharidoses
2006054 Mitochondrial Disorders Panel (mtDNA Sequencing and Deletion/Duplication , 121 Nuclear Genes Sequencing, 119 Nuclear Genes Deletion/Duplication) Mitochondrial Disorders MT PANEL, Mitochondrial, mitochondria, heteroplasmy, mtDNA, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN,MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, ABCB7, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, APTX, ASS1, ATPAF2, BCKDHA, BCKDHB, BCS1L, C10orf2, CABC1, COQ9, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DBT, DGUOK, DLAT, DLD, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FH, FXN, GFM1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSPD1, LARS2, LRPPRC, MCCC2, MFN2, MPV17, MRPS16, MRPS22, NDUFA1, NDUFA11, NDUFA2, NDUFAF1, NDUFAF3, NDUFAF4, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1, PC, PCK2, PDHB, PDHX, PDP1, PDSS1, PDSS2, PINK1, POLG, POLG2, PPM1B, PREPL, PUS1, RRM2B, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TIMM8A, TK2 , TSFM, TUFM, TYMP, UQCRB, UQCRQ, WFS1, COQ2, COX4I2, CYCS, FASTKD2, GFER, ISCU, NDUFAF2, NDUFAF5, PDHA1, RARS2, SDHAF1, SUOX, TMEM70, TMPO, TRMU, Kearns-Sayre syndrome (KSS), Leber hereditary optic neuropathy (LHON), Leigh syndrome, mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged red fibers (MERRF), neurogenic weakness with ataxia and retinitis pigmentosa (NARP), Pearson syndrome, progressive external ophthalmoplegia (PEO)
2006872 Mitochondrial Disorders (mtDNA) Sequencing and Deletion/Duplication Mitochondrial Disorders MT SEQDD, Mitochondrial, mitochondria, mtDNA, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN,MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, Kearns-Sayre syndrome (KSS), Leber hereditary optic neuropathy (LHON), Leigh syndrome, mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged red fibers (MERRF), neurogenic weakness with ataxia and retinitis pigmentosa (NARP), Pearson syndrome, progressive external ophthalmoplegia (PEO)
2006878 Mitochondrial Disorders (121 Nuclear Genes by Sequencing, 119 Nuclear Genes by Deletion/Duplication) Mitochondrial Disorders MT N SQDD, , Mitochondrial, mitochondria, heteroplasmy, mtDNA, ABCB7, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, APTX, ASS1, ATPAF2, BCKDHA, BCKDHB, BCS1L, C10orf2, CABC1, COQ9, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DBT, DGUOK, DLAT, DLD, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FH, FXN, GFM1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSPD1, LARS2, LRPPRC, MCCC2, MFN2, MPV17, MRPS16, MRPS22, NDUFA1, NDUFA11, NDUFA2, NDUFAF1, NDUFAF3, NDUFAF4, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1, PC, PCK2, PDHB, PDHX, PDP1, PDSS1, PDSS2, PINK1, POLG, POLG2, PPM1B, PREPL, PUS1, RRM2B, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TIMM8A, TK2 , TSFM, TUFM, TYMP, UQCRB, UQCRQ, WFS1, COQ2, COX4I2, CYCS, FASTKD2, GFER, ISCU, NDUFAF2, NDUFAF5, PDHA1, RARS2, SDHAF1, SUOX, TMEM70, TMPO, TRMU, Leigh syndrome, progressive external ophthalmoplegia (PEO)
2006065 Mitochondrial Disorders (mtDNA) Sequencing Mitochondrial Disorders MT SEQ, Mitochondrial, mitochondria, mtDNA, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN,MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, Leber hereditary optic neuropathy (LHON), Leigh syndrome, mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged red fibers (MERRF), neurogenic weakness with ataxia and retinitis pigmentosa (NARP), progressive external ophthalmoplegia (PEO)
2006050 Mitochondrial Disorders (121 Nuclear Genes) Sequencing Mitochondrial Disorders MT N SQ, Mitochondrial, mitochondria, heteroplasmy, mtDNA, ABCB7, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, APTX, ASS1, ATPAF2, BCKDHA, BCKDHB, BCS1L, C10orf2, CABC1, COQ9, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DBT, DGUOK, DLAT, DLD, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FH, FXN, GFM1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSPD1, LARS2, LRPPRC, MCCC2, MFN2, MPV17, MRPS16, MRPS22, NDUFA1, NDUFA11, NDUFA2, NDUFAF1, NDUFAF3, NDUFAF4, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1, PC, PCK2, PDHB, PDHX, PDP1, PDSS1, PDSS2, PINK1, POLG, POLG2, PPM1B, PREPL, PUS1, RRM2B, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TIMM8A, TK2 , TSFM, TUFM, TYMP, UQCRB, UQCRQ, WFS1, COQ2, COX4I2, CYCS, FASTKD2, GFER, ISCU, NDUFAF2, NDUFAF5, PDHA1, RARS2, SDHAF1, SUOX, TMEM70, TMPO , TRMU, Leigh syndrome, progressive external ophthalmoplegia (PEO)
2006061 Mitochondrial Disorders (mtDNA and 119 Nuclear Genes) Deletion/Duplication Mitochondrial Disorders MT DD, Mitochondrial, mitochondria, heteroplasmy, mtDNA, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN,MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, ABCB7, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, APTX, ASS1, ATPAF2, BCKDHA, BCKDHB, BCS1L, C10orf2, CABC1, COQ9, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DBT, DGUOK, DLAT, DLD, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FH, FXN, GFM1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSPD1, LARS2, LRPPRC, MCCC2, MFN2, MPV17, MRPS16, MRPS22, NDUFA1, NDUFA11, NDUFA2, NDUFAF1, NDUFAF3, NDUFAF4, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1, PC, PCK2, PDHB, PDHX, PDP1, PDSS1, PDSS2, PINK1, POLG, POLG2, PPM1B, PREPL, PUS1, RRM2B, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TIMM8A, TK2 , TSFM, TUFM, TYMP, UQCRB, UQCRQ, WFS1, COQ2, COX4I2, CYCS, FASTKD2, GFER, ISCU, NDUFAF2, NDUFAF5, PDHA1, RARS2, SDHAF1, SUOX, TMEM70, TMPO, TRMU, Kearns-Sayre syndrome (KSS), Pearson syndrome, progressive external ophthalmoplegia (PEO)
2008840 Multiple Epiphyseal Dysplasia Panel, Sequencing and Deletion/Duplication, 6 Genes Multiple Epiphyseal Dysplasia MED PANEL, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2, achondrogenesis type Ib, atelosteogenesis type II, diastrophic dysplasia, pseudoachondroplasia
2008837 Multiple Epiphyseal Dysplasia Panel, Sequencing, 6 Genes Multiple Epiphyseal Dysplasia MED SEQ, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2, achondrogenesis type Ib, atelosteogenesis type II, diastrophic dysplasia, pseudoachondroplasia
2008834 Multiple Epiphyseal Dysplasia Panel, Deletion/Duplication, 6 Genes Multiple Epiphyseal Dysplasia MED DD, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
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, InformaSeq, Qnatal, Pregnancy Screen
2010232 Non-Invasive Prenatal Testing for Fetal Aneuploidy (Panorama) with Microdeletions Non-Invasive Prenatal Testing (Cell-Free DNA) NIPTANEUMD, 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, Microdeletion, deletion, DiGeorge, Velocardiofacial, VCF, VCFS, 22q, del22, Angelman, Prader-Willi, 15q, PWS, 5p-, 5p, cri du chat, cri-du-chat, 1p36, InformaSeq, Qnatal, Pregnancy Screen
2013142 Non-Invasive Prenatal Testing for Fetal Aneuploidy with 22q11.2 Microdeletion (Panorama) Additional Technical Information 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, InformaSeq, Qnatal, Pregnancy Screen
2010772 Noonan Spectrum Disorders Panel, Sequencing, 15 Genes Noonan Syndrome 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, 15 Genes, Fetal Noonan Syndrome 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
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
2012026 Breast and Ovarian Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 20 Genes Ovarian Cancer BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
2007376 Periodic Fever Syndromes Sequencing, 7 Genes Periodic Fever Syndromes PRFEVERSEQ, 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)
2007366 Periodic Fever Syndromes Deletion/Duplication, 6 Genes Periodic Fever Syndromes PRFEVER DD, 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 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)
2007370 Periodic Fever Syndromes Panel, Sequencing, 7 Genes, and Deletion/Duplication, 6 Genes 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)
2011156 Primary Antibody Deficiency Panel, Sequencing (35 Genes) and Deletion/Duplication (26 Genes) 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
2009345 Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication, Multigene Pulmonary Arterial Hypertension (PAH) PAH PANEL, ACVRL1/ALK1, BMPR2, CAV1, ENG, KCNK3, EIF2AK4
2009350 Pulmonary Arterial Hypertension (PAH) Sequencing, Multigene Pulmonary Arterial Hypertension (PAH) PAH SEQ, ACVRL1/ALK1, BMPR2, CAV1, ENG, KCNK3, EIF2AK4
2010214 Renal Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 15 Genes 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 Cancer Panel, Hereditary, Sequencing and Deletion/Duplication, 47 Genes 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
2010757 Cancer Panel, Hereditary, Deletion/Duplication, 46 Genes Renal Cancer CANCER DD, ALK, APC, BAP1, BMPR1A, CDH1, CDK4, CDKN1B, CDKN2A, EPCAM, FH, FLCN, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUYTH, NF2, PHOX2B, PTEN, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, 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
2007085 Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication, 53 Genes Retinitis Pigmentosa/Leber Congenital Amaurosis RP PANEL, 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, NR2E3, NRL, PDE6A, PDE6B, PRCD, PROM1, PRPF3, PRPF31, PRPF8, RD3, RDH12, RDS, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, SAG, SEMA4A, , SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, adult vitelliform MD, Coats-like vasculopathy, cone-rod dystrophy, macular atrophy, Nephronophthisis, Oguchi, Peripapillary atrophy, preserved para-arteriolar RPE (PPRPE), retinopathy, S-cone syndrome, Stargardt disease
2007091 Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing, 53 Genes Retinitis Pigmentosa/Leber Congenital Amaurosis RP SEQ, 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, NR2E3, NRL, PDE6A, PDE6B, PRCD, PROM1, PRPF3, PRPF31, PRPF8, RD3, RDH12, RDS, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, SAG, SEMA4A, , SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, adult vitelliform MD, Coats-like vasculopathy, cone-rod dystrophy, macular atrophy, Nephronophthisis, Oguchi, Peripapillary atrophy, preserved para-arteriolar RPE (PPRPE), retinopathy, S-cone syndrome, Stargardt disease
2007095 Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Deletion/Duplication, 53 Genes Retinitis Pigmentosa/Leber Congenital Amaurosis RP DD, 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, NR2E3, NRL, PDE6A, PDE6B, PRCD, PROM1, PRPF3, PRPF31, PRPF8, RD3, RDH12, RDS, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, SAG, SEMA4A, , SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, adult vitelliform MD, Coats-like vasculopathy, cone-rod dystrophy, macular atrophy, Nephronophthisis, Oguchi, Peripapillary atrophy, preserved para-arteriolar RPE (PPRPE), retinopathy, S-cone syndrome, Stargardt disease
2010219 Severe Combined Immunodeficiency (SCID) Panel, Sequencing and Deletion/Duplication, 19 Genes Severe Combined Immunodeficiency SCID PAN, ADA, AK2/ADK2, CD247/CD3Z, CD3D, CD3E, CORO1A, DCLRE1C/ARTEMIS, FOXN1/WHN, IL2RG, IL7R, JAK3, LIG4, NHEJ1, PNP, PRKDC/DNA-PKcs, PTPRC/CD45, RAG1, RAG2, RMRP, leaky SCID, reticular dysgenesis
2010209 Melanoma Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 6 Genes Skin Cancer MELCAPAN, BAP1, CDK4, CDKN2A, PTEN, RB1, TP53, melanoma, melanoma of the eye BAP1, CDK4, CDKN2A, PTEN, RB1, TP53
2012032 Cancer Panel, Hereditary, Sequencing and Deletion/Duplication, 47 Genes Skin Cancer CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel
2010757 Cancer Panel, Hereditary, Deletion/Duplication, 46 Genes Skin Cancer CANCER DD, ALK, APC, BAP1, BMPR1A, CDH1, CDK4, CDKN1B, CDKN2A, EPCAM, FH, FLCN, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUYTH, NF2, PHOX2B, PTEN, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, 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
2007384 Vascular Malformations Panel, Sequencing and Deletion/Duplication, 14 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 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)
2007380 Vascular Malformations Deletion/Duplication, 14 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 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)
2007390 Vascular Malformations Sequencing, 14 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 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)
2009326 Cerebral Cavernous Malformation (CCM) Panel, Sequencing and Deletion/Duplication, 3 Genes Vascular Malformation Syndromes CCM PANEL, Cerebral Cavernous Malformation, CCM1/KRIT1, CCM2, CCM3/PDCD10
2009331 Cerebral Cavernous Malformation (CCM) Sequencing, 3 Genes Vascular Malformation Syndromes CCM SEQ, Cerebral Cavernous Malformation, CCM1/KRIT1, CCM2, CCM3/PDCD10
2009337 Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication, 5 Genes Vascular Malformation Syndromes HHT PANEL, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4
2009342 Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing, 5 Genes Vascular Malformation Syndromes HHT SEQ, hereditary hemorrhagic telangiectasia, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4
2010225 X-Linked Intellectual Disability Panel, Sequencing, 76 Genes X-Linked Intellectual Disability XLID SEQ, XLID, X-linked intellectual disability, ABCD1, ACSL4/FACL4, AFF2/FRAXE, AP1S2, ARHGEF9, ARX, ATP7A, ATRX, BCOR, BRWD3, CASK, CDKL5, CUL4B, DCX, DKC1, DLG3, DMD, FGD1, FLNA, FMR1, FTSJ1, GDI1, GK, GPC3, GRIA3, HCCS, HCFC1, HPRT1, HSD17B10, HUWE1, IDS, IL1RAPL1, IQSEC2, KDM5C, L1CAM, LAMP2, MBTPS2, MECP2, MED12, MID1, NDP, NDUFA1, NHS, NLGN4X, NSDHL, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RPS6KA3/RSK2, SLC16A2/MCT8, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SYN1, SYP, TIMM8A, TSPAN7, UBE2A, UPF3B, ZDHHC9, ZNF711
2004434 X Chromosome Ultra-High Density Microarray, 954 Genes X-Linked Intellectual Disability X ARRAY, Neurocognitive Impairments, X-linked, mental retardation, pervasive developmental delay, seizures, x chromosome, MR, ID, DD, autism, ASD, PDD, intellectual disability, developmental disability, IDD