Molecular Genetics Testing

Molecular Text Index   Pricing ARUP Client Services (800) 522-2787
  Genetic Counselors Chris Miller, MS, LCGC

Chris Miller, M.S., L.C.G.C.,Chris Miller, MS, LCGC, Genetic Counselor, Molecular Genetics Laboratory
Chris Miller is a genetic counselor in molecular genetics at ARUP Laboratories. She received her MS in genetic counseling from the University of South Carolina and is certified by the American Board of Medical Genetics in genetic counseling. She is licensed by the state of Utah and is holds a faculty position in the University of Utah graduate program in genetic counseling.

(800) 242-2787, ext. 2946
      Patti Krautscheid, MS, LCGC

Patti Franckowiak, M.S., L.C.G.

Patti Krautscheid, MS, LCGC, Genetic Counselor
Patti Krautscheid is a genetic counselor with ARUP's Molecular Genetics Department and Maternal Serum Screening Program. A member of the National Society of Genetic Counselors, she is certified by the American Board of Genetic Counseling and licensed by the state of Utah. Ms. Krautscheid received her master of science in genetic counseling from the University of Michigan.

(800) 242-2787, ext. 3439
      Kim Hart, MS, LGC

Kim Hart, MS, LGC
Kim Hart is a genetic counselor with ARUP Laboratories’ Molecular Genetics Department, Cytogenetics Department, and Maternal Serum Screening Program. She has board eligibility by the American Board of Genetic Counseling, is licensed by the state of Utah, and is a member of the National Society of Genetic Counselors. Ms. Hart received her MS in genetic counseling from the University of Utah.

(800) 242-2787, ext. 3922
      Tatiana Tvrdik, MS, LGC, PhD

Tatiana Tvrdik, MS, LGC, PhD
Dr. Tvrdik is a genetic counselor with ARUP Laboratories’ Molecular Genetics Department and Maternal Serum Screening Program. She has board eligibility by the American Board of Genetic Counseling and is licensed by the state of Utah. Dr. Tvrdik received her MS in genetic counseling from the University of Utah and her PhD in environmental medicine from the Karolinska Institute in Stockholm, Sweden.

(800) 242-2787, ext. 2119
    Jamie McDonald, MS, LCGC

Jamie McDonald, M.S., L.C.G.C.,Jamie McDonald, MS, LCGC, Genetic Counselor
Jamie McDonald is a genetic counselor with ARUP's Molecular Genetics Department where she focuses primarily on hereditary hemorrhagic telangiectasia (HHT). She received her MS in genetic counseling from the University of California, Berkeley, and undergraduate degree in biology from Carleton College. She is certified by the American Board of Genetic Counseling and is licensed by the state of Utah. She is also co-director of the University of Utah HHT Center.

(800) 242-2787, ext. 3179
  Medical Directors Elaine Lyon, PhD

LyonElaine Lyon, PhD
Medical Director of Molecular Genetics and Assistant Director of Sequencing
Dr. Lyon is the medical director of the Molecular Genetics, the assistant medical director of Sequencing, and an associate professor of pathology at the University of Utah. She received her PhD in medical genetics from the University of Alabama at Birmingham and continued with fellowship training in clinical molecular genetics at the University of Utah. She is certified in clinical molecular genetics by the American Board of Medical Genetics.

 
    Rong Mao, MD

MaoRong Mao, MD
Co-Medical Director of Molecular Genetics
Dr. Mao is the co-medical director of Molecular Genetics at ARUP and an assistant professor of pathology at the University of Utah School of Medicine. Dr. Mao received her MD from Capital University of Medicine in Beijing, China, and her MS in molecular pathology from Beijing Union Medical College. She is certified by the American Board of Medical Genetics, with a subspecialty in clinical molecular genetics, and by the New York State Department of Health, with a subspecialty in genetic testing.

 
      Pinar Bayrak-Toydemir, MD, PhD

Pinar Bayrak-Toydemir, MD, PhD
Associate Medical Director, Molecular Genetics Laboratory

Dr. Bayrak-Toydemir is the associate medical director of the Molecular Genetics Laboratory at ARUP and an assistant professor of pathology at the University of Utah School of Medicine. Dr. Bayrak-Toydemir received her MD from the Ankara University School of Medicine in Ankara, Turkey, where she also received her PhD in human genetics. Subsequently, she completed her fellowship in clinical molecular genetics at the University of Utah. She is board certified in medical genetics, and her research interests include fetal cell analysis in maternal blood and hereditary hemorrhagic telangiectasia.

 
      Jeffrey Swenson, PhD

Jeffrey Swensen, PhD
Assistant Medical Director, Molecular Genetics

Dr. Swensen is an assistant medical director of the Molecular Genetics Department at ARUP and an assistant professor of clinical pathology at the University of Utah School of Medicine. Dr. Swensen received his PhD in medical informatics with a specialization in genetic epidemiology from the University of Utah, where he also completed a fellowship in clinical molecular genetics. He is a member of the American Society of Human Genetics. His current research interests include hereditary cancer predisposition syndromes and premature aging syndromes.

 
      Hunter Best, PhD

Hunter Best, PhD
Assistant Medical Director, Molecular Genetics

Dr. Best is an assistant medical director of the Molecular Genetics Department at ARUP and an assistant professor of clinical pathology at the University of Utah School of Medicine. Dr. Best received his PhD in molecular and cellular pathology at the University of North Carolina School of Medicine and completed a fellowship in clinical molecular genetics at the Vanderbilt University Medical Center in Nashville. He is a member of the American Society for Investigative Pathology, Association for Molecular Pathology, and American Association for the Advancement of Science.

 
   
 
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) ARUP Technical Bulletin
Apolipoprotein E (APOE)
0055566 Apolipoprotein E (APOE) 2 Mutations, Cardiovascular Risk ARUP Technical Bulletin
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
  • ARUP Technical Bulletins
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 ARUP Technical Bulletins
2001967 32 Mutations with Reflex to Sequencing and Reflex to Deletion/Duplication ARUP Technical Bulletins
0051642 CFTR Deletion/Duplication ARUP Technical Bulletins
2001969 32 Mutations, Atypical
2001970 32 Mutations, Fetal
0056003 5T Mutation  
0056006 Cis-Trans (CFTR) R117H & 5T Mutations
0050098 3199del6 Mutation ( when I148T positive) ARUP Technical Bulletins
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) Technical Bulletins
F
Factor II
—see Prothrombin.
Factor V Leiden
0097720 Factor V Leiden (F5) R506Q Mutation Technical Bulletins
0030192 Factor V Leiden Functional Assay with Reflex to PCR
2001549 Factor V R2 A4070G Mutation Technical Bulletins
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
ARUP Technical Bulletin
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
ARUP Technical Bulletin
5-Fluorouracil Sensitivity
2002420 5-FU Sensitivity (DPYD, TYMS & MTHFR) 8 Mutations
ARUP Technical Bulletin
Fragile X
0040011 Fragile X (FMR1) Diagnostic
ARUP Technical Bulletin
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
ARUP Technical Bulletin
G
G6PD Deficiency
0051684 Glucose-6-Phosphate Dehydrogenase (G6PD), DNA Mutation, African Alleles (A376G, G202A)
ARUP Technical Bulletin
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
ARUP Technical Bulletin
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
  • ARUP Technical Bulletins
2002005 Pancreatitis, Idiopathic (CFTR, PRSS1, SPINK1) Sequencing
2002012 Pancreatitis, Idiopathic (SPINK1) Sequencing
Platelet Antigen Genotyping
  • ARUP Technical Bulletins
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
ARUP Technical Bulletin
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

Thanatophoric Dysplasia (FGFR3 Gene Mutations)

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)

 
 
All ARUP Sites:        www.aruplab.com     ·     www.arupconsult.com     ·     www.arup.utah.edu     ·     www.childx.org     ·     www.utahblood.org