Molecular Genetics Testing



Molecular Text Index
  Pricing ARUP Client Services
Consent Forms & Patient History
(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 x2946
  Patti Franckowiak, MS, LCGC

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

Patti Franckowiak, M.S., L.C.G. Genetic Counselor
Patti Franckowiak is a genetic counselor with ARUP's Molecular Genetics 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. Franckowiak received her MS in genetic counseling from the University of Michigan.

(800) 242-2787 x3439
    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 x3179
  Lab 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
Assistant Medical Director, Molecular Genetics Laboratory

Dr. Bayrak-Toydemir is the assistant medical director of the Molecular Genetics Laboratory at ARUP. She also has an adjunct appointment as 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.

 
 
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
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) ARUP Technical Bulletin
Apolipoprotein E (APO E)
0055566 Apolipoprotein E for Cardiac Risk (e2, e3, e4 alleles) 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
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
  • ARUP Technical Bulletins
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 ARUP Technical Bulletins
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 ARUP Technical Bulletins
0051642 Cystic Fibrosis Deletion and Duplication ARUP Technical Bulletins
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 Technical Bulletins
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
ARUP Technical Bulletin
G
G6PD Deficiency
0051684 Glucose-6-Phosphate Dehydrogenase (G6PD), DNA Mutation, African Alleles (A376G, G202A)
ARUP Technical Bulletin
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
 
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
  • ARUP Technical Bulletins
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

Thanatophoric Dysplasia (FGFR3 Gene Mutations)

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)