| Molecular Text Index | Pricing | ARUP Client Services | (800) 522-2787 | |
| Genetic Counselors |
Chris Miller, MS, LCGC
|
(800) 242-2787, ext. 2946 | ||
| Patti Krautscheid, MS, LCGC Patti Krautscheid, MS, LCGC, Genetic Counselor |
(800) 242-2787, ext. 3439 | |||
| Kim Hart, MS, LGC
|
(800) 242-2787, ext. 3922 | |||
| Tatiana Tvrdik, MS, LGC, PhD
|
(800) 242-2787, ext. 2119 | |||
| A–G |
Jamie McDonald, MS, LCGC
|
(800) 242-2787, ext. 3179 | ||
| H–L | Medical Directors | Elaine Lyon, PhD
|
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| M–Z | Rong Mao, MD
|
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| Pinar Bayrak-Toydemir, MD, PhD
|
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| Jeffrey Swenson, PhD Jeffrey Swensen, PhD
|
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| Hunter Best, PhD
|
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| A | |||
|---|---|---|---|
| Abacavir Sensitivity | —see HLA-B*5701. | ||
| Achondroplasia | |||
| 0051266 | Achondroplasia Mutation (G1138A, G1138C) | ||
| 0051265 | Achondroplasia Mutation, Fetal | ||
| ADBR2 | |||
| —see Beta-2-Adrenergic Receptor. | |||
| Alpha-1-Antitrypsin | |||
| 0051256 | Alpha-1-Antitrypsin & A1A Genotype with Reflex to Phenotype | ||
| Alpha Thalassemia | |||
| 0051495 | Alpha Thalassemia, HBA1 & HBA2, Gene Deletions |
||
| 2001582 | Alpha Thalassemia, HBA1 & HBA2, Sequencing |
||
| Alport Syndrome | |||
| 2002398 | Alport Syndrome, X-linked (COL4A5) Sequencing and Deletion/Duplication | ||
| 2002394 | Alport Syndrome, X-linked (COL4A5) Deletion/Duplication | ||
| 0051786 | Alport Syndrome, X-linked (COL4A5) Sequencing | ||
| 0051710 | Alport Syndrome, Adult Type (COL4A5), 3 Mutations | ||
| Angelman Syndrome | |||
| 0051113 | Angelman Syndrome (Methylation) | ||
| Ankylosing Spondylitis | |||
| —see HLA-B27. | |||
| Apolipoprotein B (APOB) | |||
| 0055654 | Apolipoprotein B Mutation Detection (G9775A, C9774T) | ||
| Apolipoprotein E (APOE) | |||
| 0055566 | Apolipoprotein E (APOE) 2 Mutations, Cardiovascular Risk | ||
| ASPA Gene Mutation Analysis (Canavan Disease) | |||
| —see Canavan Disease. | |||
| Ashkenazi Jewish Panel (8 disorders) | |||
| 0051415 | Ashkenazi Jewish Panel: Bloom Syndrome, Canavan Disease, Familial Dysautonomia, Fanconi Anemia Group C, Gaucher Disease, Mucolipidosis IV, Niemann-Pick Type A, and Tay-Sachs Disease. | B | |
| Bannayan-Riley-Ruvalcaba Syndrome | |||
| —see PTEN. | |||
| Beta-2-Adrenergic Receptor | |||
| 0051288 | Beta-2-Adrenergic Receptor Gene Haplotyping (Arg16Gly, Gln27Glu) | ||
| Beta Globin | |||
| 0050578 | Beta Globin (HBB) Sequencing | ||
| 0050388 | Beta Globin (HBB) Sequencing, Fetal | ||
| 0051421 | Beta Globin HbS, HbC, HbE Detection | ||
| 0051422 | Beta Globin HbS, HbC, HbE Detection, Fetal | ||
| Biotinidase Deficiency | |||
| 0051700 | Biotinidase Deficiency (BTD), 5 Mutations | ||
| 0051730 | Biotinidase Deficiency (BTD) Sequencing | ||
| Bloom Syndrome | |||
| 0051433 | Bloom Syndrome (BLM) 2281del6/ins7 Mutation | ||
| 0051434 | Bloom Syndrome (BLM) 2281del6/ins7 Mutation, Fetal | ||
| BRAF V600E Mutation | |||
| —see Lynch Syndrome. | |||
| C | |||
| Canavan Disease | |||
| 0051453 | Canavan Disease (ASPA) 4 Mutations | ||
| 0051454 | Canavan Disease (ASPA) 4 Mutations, Fetal | ||
| Capillary Malformation-Arteriovenous Malformation (CM-AVM) Syndrome | |||
| —see RASA1. | |||
| Carnitine Deficiency, Primary | 0051682 | Carnitine Deficiency, Primary (SLC22A5) Sequencing | |
| Chimerism | |||
| 2002067 | Chimerism, Donor | ||
| 2002065 | Chimerism, Recipient Pre-Transplant | ||
| 2002066 | Chimerism, Post-Transplant | ||
| 2002064 | Chimerism, Post-Transplant, Sorted Cells | ||
| Connexin 26 (GJB2) | |||
| —see Hearing Loss. | |||
| Connexin 30 (GJB6) | |||
| —see Hearing Loss. | |||
| Cowden Syndrome | |||
| —see PTEN. | |||
| CYP1B1 | |||
| —see Glaucoma, Primary Congenital. | |||
| Cystic Fibrosis | |||
| 2001933 | Cystic Fibrosis (CFTR) 32 Mutations | ||
| 0051110 | CFTR Sequencing | ||
| 2001968 | 32 Mutations with Reflex to Sequencing | ||
| 0051640 | CFTR Sequencing with Reflex to Deletion/Duplication | ||
| 2001967 | 32 Mutations with Reflex to Sequencing and Reflex to Deletion/Duplication | ||
| 0051642 | CFTR Deletion/Duplication | ||
| 2001969 | 32 Mutations, Atypical | ||
| 2001970 | 32 Mutations, Fetal | ||
| 0056003 | 5T Mutation | ||
| 0056006 | Cis-Trans (CFTR) R117H & 5T Mutations | ||
| 0050098 | 3199del6 Mutation ( when I148T positive) | ||
| Cytochrome P450 | |||
| 0051103 | Cytochrome P450 2C9 (CYP2C9) 2 Mutations | ||
| 0051104 | Cytochrome P450 2C19 (CYP2C19) 7 Mutations | ||
| 0051232 | Cytochrome P450 2D6 (CYP2D6) 14 Mutations & Gene Duplication (Genotyping to Predict Metabolic Activation of Tamoxifen) | ||
| F | |||
| Factor II | |||
| —see Prothrombin. | |||
| Factor V Leiden | |||
| 0097720 | Factor V Leiden (F5) R506Q Mutation | ||
| 0030192 | Factor V Leiden Functional Assay with Reflex to PCR | ||
| 2001549 | Factor V R2 A4070G Mutation | ||
| Familial Mutation Testing | 0051463 | Dysautonomia, Familial (IKBKAP) 2 Mutations | |
| 0051464 | Dysautonomia, Familial (IKBKAP) 2 Mutations, Fetal | ||
| Familial Dysautonomia | 2001961 | Familial Mutation, Targeted Sequencing | |
| 2001980 | Familial Mutation, Targeted Sequencing, Fetal | ||
| Familial Hypercholesterolemia | —see Apolipoprotein B. | ||
| Familial Mediterranean Fever (MEFV) | 2002658 | Familial Mediterranean Fever (MEFV) Sequencing | |
| Fanconi Anemia Group C | 0051468 | Fanconi Anemia Group C, FANCC Gene Mutations (322delG, IVS4(+4)A>T) | |
| 0051469 | Fanconi Anemia Group C, FANCC Gene Mutations, Fetal | ||
| FGFR3 Gene Mutation Analysis | |||
| —see Achondroplasia. | |||
| —see Hypochondroplasia. | |||
| —see Thanatophoric Dysplasia. | |||
| FG Syndrome | |||
| 0051752 | FG Syndrome, FGS1 (MED12) R961W Mutation | ||
| 5-Fluorouracil Sensitivity | |||
| 2002420 | 5-FU Sensitivity (DPYD, TYMS & MTHFR) 8 Mutations | ||
| Fragile X | |||
| 0040011 | Fragile X (FMR1) Diagnostic | ||
| 2001946 | Fragile X (FMR1) Screen with Reflex to Fragile X (FMR1) Diagnostic | ||
| 0050543 | Fragile X Syndrome, Fetal | ||
| Freeman-Sheldon Syndrome (MYH3) | |||
| 2002662 | Freeman-Sheldon Syndrome (MYH3) Sequencing Exon 17 | ||
| G | |||
| G6PD Deficiency | 0051684 | Glucose-6-Phosphate Dehydrogenase (G6PD), DNA Mutation, African Alleles (A376G, G202A) | |
| Galactosemia | |||
| 0051175 | Enzyme Activity and 9 Mutations | ||
| 0051176 | 9 Mutations | ||
| 0051270 | 9 Mutations, Fetal | ||
| 0051346 | GALT Sequencing | ||
| Gaucher Disease | |||
| 0051438 | Gaucher Disease (GBA) 8 Mutations | ||
| 0051439 | Gaucher Disease (GBA) 8 Mutations, Fetal | ||
| Glaucoma, Primary Congenital (CYP1B1) | |||
| 0051476 | Primary Congenital Glaucoma (CYP1B1) Sequencing | ||
| H | |||
| Haptoglobin | |||
| 0040116 | Haptoglobin (HP) Genotyping | ||
| Hearing Loss | |||
| 2001992 | Hearing Loss, Nonsyndromic Panel (GJB2) Sequencing, (GJB6) 2 Deletions and Mitochondrial DNA 2 Mutations | ||
| 0051374 | Connexin 26 (GJB2) Sequencing | ||
| 2001956 | Connexin 30 (GJB6) 2 Deletions | ||
| 2002044 | Hearing Loss, Nonsyndromic Mitochondrial DNA 2 Mutations | ||
| Hemophilia A | |||
| 2001614 | Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication | ||
| 2001759 | Hemophilia A (F8) 2 Inversions | ||
| 2001747 | Hemophilia A (F8) Sequencing | ||
| 2001751 | Hemophilia A (F8) Deletion/Duplication | ||
| 2001755 | Hemophilia A (F8) 2 Inversions, Fetal | ||
| Hemophilia B | |||
| 2001578 | Hemophilia B (F9) Sequencing | ||
| Hereditary Hemochromatosis | |||
| 0055656 | Hereditary Hemochromatosis Mutation Detection (C282Y, H63D, & S65C) | ||
| Hereditary Hemorrhagic Telangiectasia (HHT) | |||
| 0051382 | ACVRL1 and ENG Sequencing and Deletion/Duplication | ||
| 0051381 | ACVRL1 and ENG Sequencing | ||
| 0051348 | ACVRL1 and ENG Deletion/Duplication | ||
| 2001961 | HHT, Family Specific Mutation | ||
| Also see SMAD4 for Juvenile Polyposis/HHT Syndrome. | |||
| HEXA Gene Mutation Analysis (Tay-Sachs Disease) | |||
| —see Tay-Sachs Disease. | |||
| HLA-B27 (Ankylosing Spondylitis) Genotyping | 0050392 | Ankylosing Spondylitis (HLA-B27) Genotyping | |
| HLA-B*5701 (Abacavir Sensitivity) Genotyping | 2002429 | HLA-B*5701 by PCR and Fluorescence Monitoring | |
| Hereditary Non-Polyposis Colon Cancer (HNPCC) | |||
| —see Lynch Syndrome. | |||
| —see Microsatellite Instability. | |||
| HPA Genotyping | |||
| —see Platelet Antigen Genotyping. | |||
| Huntington Disease | |||
| 0040018 | Huntington Disease (HD) Mutation with Reflex to Southern Blot | ||
| Hyperlipoproteinemia, Type III | |||
| —see Apolipoprotein E. | |||
| Hypertrophic Cardiomyopathy | |||
| 0093484 | Hypertrophic Cardiomyopathy Microarray, 11 Genes | ||
| 0093482 | Hypertrophic Cardiomyopathy, Familial Mutation | ||
| Hypochondroplasia | |||
| 0051367 | Hypochondroplasia (FGFR3) 2 Mutations | ||
| I | |||
| Irinotecan Sensitivity | |||
| —see UGT1A1. | J | ||
| Juvenile Polyposis | |||
| 0051510 | Juvenile Polyposis (SMAD4) Sequencing | ||
| 2001971 | Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication | ||
| 2001976 | Juvenile Polyposis (SMAD4) Deletion/Duplication | ||
| Jewish Genetic Disease Panel | |||
| —see Ashkenazi Jewish Panel. | |||
| K | |||
| Kell Antigen Genotyping | |||
| 0051644 | Kell Antigen Genotyping (KEL1/KEL2) | ||
| L | |||
| Legius Syndrome | 2002945 | Legius Syndrome (SPRED1) Sequencing and (NF1) Sequencing Exon 22 (Exon 17) | |
| Loeys-Dietz Syndrome | |||
| 2002701 | TGFBR1 & TGFBR2 Sequencing and Deletion/Duplication | ||
| 2002705 | TGFBR1 & TGFBR2 Sequencing | ||
| 2002697 | TGFBR1 & TGFBR2 Deletion/Duplication | ||
| Lynch Syndrome | |||
| 0051650 | MLH1 Sequencing and Deletion/Duplication | ||
| 0051654 | MSH2 Sequencing and Deletion/Duplication | ||
| 0051656 | MSH6 Sequencing and Deletion/Duplication | ||
| 0051737 | PMS2 Sequencing and Deletion/Duplication | ||
| 2001728 | HNPCC/Lynch Syndrome Deletion/Duplication | ||
| 2001961 | HNPCC/Lynch Syndrome, Family Specific Mutation | ||
| 2002498 | BRAF V600E Mutation Detection by PCR | 0051750 | BRAF V600E Mutation with Reflex to MLH1 Promoter Methylation, Paraffin | 0051747 | MLH1 Promoter Methylation in Lynch Syndrome/HNPCC |
| —see Microsatellite Instability (MSI). | |||
| M | |||
| Macular Degeneration | 0051674 | Macular Degeneration, Age-Related, DNA Variants | |
| MADH4 | |||
| —see SMAD4. | |||
| MECP2 | |||
| —see Rett Syndrome. | |||
| Medium Chain Acyl-CoA Dehydrogenase (MCAD) | |||
| 0051205 | MCAD Deficiency (ACADM) 2 Mutations | ||
| 0051758 | MCAD Deficiency (ACADM) Sequencing | ||
| MEN Type 2 | |||
| —see Multiple Endocrine Neoplasia Type 2. | |||
| Methotrexate Sensitivity | |||
| 0051286 | Methotrexate Sensitivity (MTHFR) 2 Mutations | ||
| Microsatellite Instability (MSI) | |||
| 0051740 | HNPCC/ Lynch Syndrome, Microsatellite Instability by PCR | ||
| 0049302 | Microsatellite Instability/HNPCC by Immunohistochemical Stain | ||
| Mitochondrial Genome | |||
| 0093019 | Mitochondrial DNA (mtDNA), Whole Genome Scanning and Identification (Mito-ScanGX™) | ||
| MLH1 Promoter Methylation | |||
| —see Lynch Syndrome. | |||
| MTHFR (Methylenetetrahydrofolate Reductase) | |||
| 0055655 | MTHFR Thermolabile Form (C677T & A1298C) Also see Methotrexate Sensitivity by MTHFR Genotyping |
||
| Molar Pregnancy | |||
| 0051755 | Molar Pregnancy, 16 DNA Markers | ||
| Mucolipidosis IV | |||
| 0051448 | Mucolipidosis IV (MCOLN1) 2 Mutations | ||
| 0051449 | Mucolipidosis IV (MCOLN1) 2 Mutations, Fetal | ||
| Multiple Endocrine Neoplasia Type 2 (MEN2) | |||
| 0051492 | Multiple Endocrine Neoplasia Type 2B (MEN2B), RET Gene M918T & A883F Mutations | ||
| 0051390 | Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing | N | |
| Neurofibromatosis Type 1 (NF1) | |||
| 2001952 | Neurofibromatosis Type 1 (NF1) Deletion/Duplication | ||
| Niemann-Pick Disease Type A | |||
| 0051458 | Niemann-Pick, Type A (SMPD1) 4 Mutations | ||
| 0051459 | Niemann-Pick, Type A (SMPD1) 4 Mutations, Fetal | ||
| Noonan Syndrome | |||
| 0051805 | Noonan Syndrome (PTPN11) Sequencing | ||
| O | |||
| Oxygen Dissociation (P50) | |||
| 2002984 | Oxygen Dissociation, P50 by Hemoximetry | P | |
| Pancreatitis | |||
| 2002005 | Pancreatitis, Idiopathic (CFTR, PRSS1, SPINK1) Sequencing | ||
| 2002012 | Pancreatitis, Idiopathic (SPINK1) Sequencing | ||
| Platelet Antigen Genotyping | |||
| 0051308 | Platelet Antigen Genotyping Panel | ||
| 0051309 | Platelet Antigen 1 Genotyping (HPA-1) | ||
| 0051310 | Platelet Antigen 2 Genotyping (HPA-2) | ||
| 0051311 | Platelet Antigen 3 Genotyping (HPA-3) | ||
| 0051490 | Platelet Antigen 4 Genotyping (HPA-4) | ||
| 0051312 | Platelet Antigen 5 Genotyping (HPA-5) | ||
| 0051313 | Platelet Antigen 6 Genotyping (HPA-6) | ||
| 0051314 | Platelet Antigen 15 Genotyping (HPA-15) | ||
| Prader-Willi | |||
| 0051116 | Prader-Willi Syndrome (Methylation) | ||
| Primary Carnitine Deficiency | |||
| —see Carnitine Deficiency, Primary. | |||
| Proteus Syndrome | |||
| —see PTEN. | |||
| Prothrombin (Factor II) | |||
| 0056060 | Prothrombin Nucleotide 20210 G/A Gene Mutation (Factor II) | ||
| PTEN-Related Disorders | |||
| 2002470 | PTEN-Related Disorders Sequencing and Deletion/Duplication | ||
| 2002722 | PTEN-Related Disorders Sequencing | ||
| 2002726 | PTEN-Related Disorders Deletion/Duplication | ||
| R | |||
| RASA1-Related Disorders | |||
| 2002730 | RASA1-Related Disorders (RASA1) Sequencing | ||
| Rett Syndrome | |||
| 0051614 | MECP2 Sequencing and Deletion/Duplication | ||
| 0051378 | MECP2 Sequencing | ||
| 0051618 | MECP2 Deletion/Duplication | ||
| Rh Genotyping | |||
| 0050421 | RhCc Antigen (RHCE) Genotyping | ||
| 0051368 | Rh Genotyping D Antigen (RhD positive/negative and RhD copy number) | ||
| 0050423 | RhEe Antigen (RHCE) Genotyping | ||
| S | |||
| SMAD4 | |||
| —see Juvenile Polyposis. | |||
| SMPD1 Gene Mutation Analysis | |||
| —see Niemann-Pick Type A Disease. | |||
| T | |||
| Tay-Sachs Disease | 0051428 | Tay-Sachs (HEXA) 7 Mutations | |
| 0051429 | Tay-Sachs (HEXA) 7 Mutations, Fetal | ||
| 0051506 | TD Types I & II (FGFR3) 13 Mutations | ||
| 0051508 | TD Types I & II (FGFR3) 13 Mutations, Fetal | ||
| Thrombotic Risk | |||
| 0030192 | Resistance Profile with Reflex to Factor V Leiden | ||
| 0056200 | Thrombotic Risk, DNA Panel (FVL, Factor II, MTHFR) | ||
| 0030133 | Thrombotic Risk Panel with Reflex to Factor V Leiden (Partial Thromboplastin Time, Factor VIII Activity, Total homocysteine, Prothrombin G20210A, APC Resistance Profile) | ||
| Also see APC Resistance Profile. | |||
| Also see Factor V Leiden. | |||
| Also see Prothrombin (Factor II). | |||
| Also see MTHFR Thermolabile Form. | |||
| Twin Zygosity Testing | |||
| —see Zygosity Testing. | |||
| U | |||
| UGT1A1 Genotyping | |||
| 0051332 | UDP Glucuronosyltransferase 1A1 (UGT1A1) Genotyping (Irinotecan Sensitivity) | ||
| V | |||
| Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) | |||
| 2002001 | Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing | ||
| W | |||
| Warfarin Genotyping | |||
| 0051370 | Warfarin Sensitivity (CYP2C9 & VKORC1 ) 3 Mutations | ||
| Y | |||
| Y Chromosome Microdeletion | |||
| 2001778 | Y Chromosome Microdeletion | ||
| Z | |||
| Zygosity Testing | |||
| 0050547 | Twin Zygosity (16 markers) | ||