

Molecular Text Index |
Pricing ARUP Client Services Consent Forms & Patient History |
(800) 522-2787 | ||
| Genetic Counselors |
Chris Miller, MS, LCGC
|
(800) 242-2787 x2946 | ||
|
Patti Franckowiak, MS, LCGC Patti Franckowiak, M.S., L.C.G. Genetic Counselor |
(800) 242-2787 x3439 | |||
| A–G |
Jamie McDonald, MS, LCGC
|
(800) 242-2787 x3179 | ||
| H–L | Lab 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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| A | |||
|---|---|---|---|
| Achondroplasia | |||
| 0051266 | Achondroplasia Mutation (G1138A, G1138C) | ||
| 0051265 | Achondroplasia Mutation, Fetal | ||
| ADBR2 | |||
| —see Beta-2-Adrenergic Recepto. | |||
| Alpha-1-Antitrypsin | |||
| 0051256 | Alpha-1-Antitrypsin Protein & Alpha-1-Antitypsin Genotyping (S and Z alleles) with Reflex to Alpha-1-Antitrypsin Phenotype | ||
| Alpha Thalassemia | |||
| 0051495 | Alpha Thalassemia, HBA1 & HBA2 Gene Deletions |
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| Alport Syndrome | |||
| 0051710 | Alport Syndrome, Adult Type (COL4A5), 3 Mutations | ||
| Angelman Syndrome | |||
| 0051113 | Angelman Syndrome (Methylation) | ||
| Ankylosing Spondylitis | |||
| —see HLA-B27. | |||
| APC Resistance | |||
| 0030127 | APC Resistance Profile | ||
| 0030192 | APC Resistance Profile with Reflex to Factor V Leiden | ||
| Apolipoprotein B (APO B) | |||
| 0055654 | Apolipoprotein B Mutation Detection (G9775A, C9774T) | ||
| Apolipoprotein E (APO E) | |||
| 0055566 | Apolipoprotein E for Cardiac Risk (e2, e3, e4 alleles) | ||
| 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 | |
| Beta-2-Adrenergic Receptor | |||
| 0051288 | Beta-2-Adrenergic Receptor Gene Haplotyping (Arg16Gly, Gln27Glu) | ||
| Beta Globin | |||
| 0050578 | Beta Globin (HBB) Full-Gene Sequencing | ||
| 0050388 | Beta Globin Sequencing, Fetal | ||
| 0051421 | Beta Globin Gene Mutations for HbS, HbC, & HbE by PCR | ||
| 0051422 | Beta Globin HbS, HbC, HbE Detection, Fetal | ||
| BCR/ABL | |||
| 0055553 | BCR/ABL, t(9;22) Translocation Qualitative Assay by RT-PCR | ||
| 0051066 | BCR/ABL, t(9;22) Translocation Quantitative Assay by RT-PCR | ||
| Biotinidase Deficiency | |||
| 0051700 | Biotinidase Deficiency (BTD), 5 Mutations | ||
| Bloom Syndrome | |||
| 0051433 | Bloom Syndrome, BLM Gene Mutation (2281del6/ins7) | ||
| 0051434 | Bloom Syndrome, BLM Gene Mutation, Fetal | ||
| C | |||
| Canavan Disease | |||
| 0051453 | Canavan Disease, ASPA Gene Mutations (Y231X, E285A, A305E, 433(-2)A>G) | ||
| 0051454 | Canavan Disease, ASPA Gene Mutations, Fetal | ||
| Carnitine Deficiency, Primary | 0051682 | Carnitine Deficiency, Primary (SLC22A5) Full Gene Sequencing | |
| Chimerism | |||
| 0050758 | Recipient Pre-Transplant Genotyping | ||
| 0050759 | Donor Pre-Transplant Genotyping | ||
| 0050760 | Post-Transplant Genotyping | ||
| Connexin 26 (GJB2) | |||
| 0051383 | Connexin 26 (GJB2), 35delG Mutation Only | ||
| 0051374 | Connexin 26 (GJB2) Sequencing | ||
| CYP1B1 | |||
| —see Glaucoma, Primary Congenital. | |||
| Cystic Fibrosis | |||
| 0050098 | Cystic Fibrosis 3199del6 | ||
| 0056040 | Cystic Fibrosis Mutation Panel | ||
| 0051110 | Cystic Fibrosis Full-Gene Sequencing (exons and intron-exon borders) | ||
| 0051150 | Cystic Fibrosis Reflex (32 Mutation Panel reflexed to CFTR sequencing if two mutations not identified) | ||
| 0051640 | Cystic Fibrosis Full-Gene Sequencing and Deletion/Duplication | ||
| 0051642 | Cystic Fibrosis Deletion and Duplication | ||
| 0050756 | Cystic Fibrosis Mutation Panel, Atypical (32 mutation panel and IVS-8 5T variant) | ||
| 0050393 | Cystic Fibrosis 32 Mutation Panel, Fetal | ||
| 0056006 | Cystic Fibrosis Cis-Trans | ||
| Cytochrome P450 | |||
| 0051103 | Cytochrome P450 2C9 by Tag-ITIM | ||
| 0051104 | Cytochrome P450 2C19 by Tag-ITIM | ||
| 0051232 | Cytochrome P450 2D6 by Tag-ITIM | ||
| F | |||
| Factor II | |||
| —see Prothrombin. | |||
| Factor V Leiden | 0097720 | Factor V Leiden by PCR & Fluorescence Monitoring (R506Q) | |
| 0030192 | Factor V Leiden Functional Assay with Reflex to PCR | ||
| Familial Dysautonomia | 0051463 | Familial Dysautonomia, IKBKAP Gene Mutations (R696P, IVS20(+6)T>C) | |
| 0051464 | Familial Dysautonomia, IKBKAP Gene Mutations, Fetal | ||
| Familial Hypercholesterolemia | —see Apolipoprotein B. | ||
| 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. | |||
| Fragile X | |||
| 0040011 | Fragile X Syndrome, Carrier/Diagnostic Testing | ||
| 0050543 | Fragile X Syndrome, Fetal | ||
| G | |||
| G6PD Deficiency | 0051684 | Glucose-6-Phosphate Dehydrogenase (G6PD), DNA Mutation, African Alleles (A376G, G202A) | |
| Galactosemia | |||
| 0051175 | Galactosemia, Panel (Enzyme and DNA testing for 7 mutations and 2 variants) | ||
| 0051176 | Galactosemia, DNA Testing (7 mutations and 2 variants) | ||
| 0051270 | Galactosemia, DNA Testing, Fetal (7 mutations and 2 variants) | ||
| 0051346 | Galactosemia, Full Gene Analysis | ||
| Gaucher Disease | |||
| 0051438 | Gaucher Disease, GBA Gene Mutations (8 mutations) | ||
| 0051439 | Gaucher Disease, GBA Gene Mutations, Fetal | ||
| Glaucoma, Primary Congenital (CYP1B1) | |||
| 0051476 | CYP1B1 Sequencing, Primary Congenital Glaucoma | ||
| H | |||
| Hearing Loss | |||
| —see Connexin 26 (GJB2). | |||
| Hereditary Hemochromatosis | |||
| 0055656 | Hereditary Hemochromatosis Mutation Detection (C282Y, H63D, & S65C) | ||
| Hereditary Hemorrhagic Telangiectasia (HHT) | |||
| 0051382 | Full Gene Analysis (ENG and ACVRL1 sequencing and dup/del analysis) | ||
| 0051381 | Full Gene Sequencing (ENG and ACVRL1) | ||
| 0051348 | Duplication/Deletion Analysis (ENG and ACVRL1) | ||
| 0051212 | Family Specific Mutation Analysis | ||
| 0051255 | Family Specific Mutation Analysis, Fetal | ||
| Also see SMAD4 for Juvenile Polyposis/HHT Syndrome. | |||
| HEXA Gene Mutation Analysis (Tay-Sachs Disease) | |||
| —see Tay-Sachs Disease. | |||
| HLA-B27 (Ankylosing Spondylitis) | 0050392 | HLA-B27 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 by PCR with Reflex to Southern Blot | ||
| Hyperlipoproteinemia, Type III | |||
| —see Apolipoprotein E. | |||
| Hypochondroplasia | |||
| 0051367 | Hypochondroplasia (FGFR3 1620C>A/G) | ||
| I | |||
| Irinotecan Sensitivity | |||
| —see UGT1A1-. | J | ||
| JAK2 (Myeloproliferative Disorders) | |||
| 0051245 | JAK2 (V617F) Mutation, Qualitative - | ||
| 0040168 | JAK2 (V617F) Mutation, Quantitation | ||
| Juvenile Polyposis | |||
| —see SMAD4. | |||
| Jewish Genetic Disease Panel | |||
| —see Ashkenazi Jewish Panel. | |||
| K | |||
| Kell Antigen Genotyping | |||
| 0051644 | Kell Antigen Genotyping (KEL1/KEL2) | ||
| L | |||
| Lynch Syndrome (HNPCC) | |||
| 0051650 | MLH1 Full Gene Analysis (sequencing and duplication/deletion analysis) | ||
| 0051654 | MSH2 Full Gene Analysis (sequencing and duplication/deletion analysis) | ||
| 0051656 | MSH2 Full Gene Analysis (sequencing and duplication/deletion analysis) | ||
| 0051648 | HNPCC/Lynch Syndrome, Family Specific Mutation | ||
| M | |||
| Macular Degeneration | 0051674 | Macular Degeneration, Age-Related, DNA Variants: CFH gene variant (c.1277C>T; p.Y402H); variant on chromosome 10q26, rs10490924 (c.6068G>T) | |
| MADH4 | |||
| —see SMAD4. | |||
| MECP2 | |||
| —see Rett Syndrome. | |||
| Medium Chain Acyl-CoA Dehydrogenase (MCAD) | |||
| 0051205 | Medium Chain Acyl-CoA Dehydrogenase (A985G, T199C) | ||
| MEN Type 2 | |||
| —see Multiple Endocrine Neoplasia Type 2. | |||
| Methotrexate Sensitivity | |||
| 0051286 | Methotrexate Sensitivity by MTHFR Genotyping (C677T & A1298C) | ||
| Microsatellite Instability (MSI) | |||
| 0050585 | Microsatellite Instability/HNPCC by PCR (5 markers) | ||
| MTHFR (Methylenetetrahydrofolate Reductase) | |||
| 0055655 | MTHFR Thermolabile Form (C677T & A1298C) Also see Methotrexate Sensitivity by MTHFR Genotyping |
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| Mucolipidosis IV | |||
| 0051448 | Mucolipidosis IV, MCOLN1 Gene Mutations (Delta6.4kb, IVS3(-2)A>G) | ||
| 0051449 | Mucolipidosis IV, MCOLN1 Gene 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, RET Gene Sequencing | N | |
| Niemann-Pick Disease Type A | |||
| 0051458 | Niemann-Pick Type A, SMPD1 Gene Mutations (L302P, 1bp del fsP330, R496L, R608del) | ||
| 0051459 | Niemann-Pick Type A, SMPD1 Gene Mutations, Fetal | P | |
| Platelet Antigen Genotyping | |||
| 0051308 | Platelet Antigen Genotyping Panel (HPA 1, 2, 3, 4, 5, 6, & 15) | ||
| 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. | |||
| Prothrombin (Factor II) | |||
| 0056060 | Prothrombin Factor II Gene Mutation (20210 G/A) | ||
| R | |||
| Rett Syndrome | |||
| 0051614 | Full Gene Analysis (MECP2 sequencing and duplication/deletion analysis) | ||
| 0051378 | Full Gene Sequencing (MECP2) | ||
| 0051618 | Duplication/Deletion Analysis (MECP2) | ||
| Rh Genotyping | |||
| 0050421 | Rh Genotyping- C/c Antigen, Fetal | ||
| 0051368 | Rh Genotyping- D Antigen (RhD positive/negative and RhD copy number) | ||
| 0050423 | Rh Genotyping- E/e Antigen, Fetal | ||
| S | |||
| SMAD4 | |||
| 0051510 | SMAD4 (MADH4) Full Gene Sequencing | ||
| SMPD1 Gene Mutation Analysis | |||
| —see Niemann-Pick Type A Disease. | |||
| Synovial Sarcoma | |||
| 0040114 | SYT-SSX t(X;18) Translocations by RT-PCR | ||
| T | |||
| Tay-Sachs Disease | 0051428 | Tay-Sachs Disease, HEXA Gene Mutations (5 mutations & 2 variants) | |
| 0051429 | Tay-Sachs Disease, HEXA Gene Mutations, Fetal | ||
| 0051506 | Thanatophoric Dysplasia Types I/II, FGFR3 Gene Mutation Panel | ||
| 0051508 | Thanatophoric Dysplasia Types I/II, FGFR3 Gene Mutation Panel, 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 | UGT1A1 (Genotyping for Irinotecan Sensitivity) | ||
| W | |||
| Warfarin Genotyping | |||
| 0051370 | Warfarin Genotyping (CYP450 2C9 *2 & *3 variants; VKORC1 promoter mutation -1639) | ||
| Z | |||
| Zygosity Testing | |||
| 0050547 | Twin Zygosity (16 markers) | ||