Pathology

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A
04/14/2015 Achondroplasia or Hypochondroplasia (FGR3) Exons 3, 5, 7, 9, 10, 13, 15 Sequencing
04/14/2015 Achondroplasia or Hypochondroplasia (FGR3) Rest of Gene Sequencing
04/14/2015 Alagille Watson Syndrome (JAG1) Known Mutation
04/14/2015 Alagille Watson Syndrome (JAG1) Sequencing
10/02/2014 Alexander Disease (GFAP) Sequencing
08/02/2015 Alpha Globin Gene Analysis (Sequencing and Del/Dup)
04/15/2015 Aminoglycoside-induced Deafness (MTRNR1) Known Mutation
05/21/2015 Angelman Microdeletion FISH (15Q11-13)
01/15/2013 Angelman Syndrome (UBE3A) Sequencing
10/02/2014 Aniridia (PAX6) Known Mutation
10/02/2014 Aniridia (PAX6) Sequencing & Deletion/Duplication
10/02/2014 Anophthalmia, Microphthalmia (SIX6) Deletion/Duplication
10/02/2014 Anophthalmia, Microphthalmia (SIX6) Known Mutation
10/02/2014 Anophthalmia, Microphthalmia (SOX2) Deletion/Duplication
10/02/2014 Anophthalmia, Microphthalmia (SOX2) Known Mutation
10/02/2014 Anophthalmia, Microphthalmia (SOX2) Sequencing
03/13/2014 Autopsy and Death Procedures
B
08/13/2015 BCR-abl by Fish, Blood (ANW)
08/13/2015 BCR-abl by Fish, Blood/Bone Marrow (Fairview)
05/21/2015 BCR-abl by Fish, Bone Marrow (ANW)
05/25/2016 BCR-abl by PCR, Qualitative, Blood/Bone Marrow (Mayo)
05/19/2016 BCR-abl, p190, Quant Monitor (Mayo)
04/13/2017 BCR-abl, p210, RNA Quant, Monitor CML (Mayo)
01/28/2016 BCR-abl, Tyrosine Kinase Inhibitor Resistance, Kinase Domain Mutation Screen
08/02/2015 Beckwith-Wiedemann Syndrome & Russell-Silver Syndrome Methylation, Blood
04/15/2015 Branchio-oto-renal Syndrome (EYA1) Known Mutation
03/13/2014 Bronchoalveolar Lavage Cell Count and Differential
C
08/02/2015 CFTR 106 Mutation Panel Sequencing
08/25/2015 CFTR Full Gene Sequencing with Deletion/Duplication
08/02/2015 CFTR Known Mutation
07/21/2017 CGH with SNP Array
03/13/2014 Chromosome, Blood, Breakage Syndromes
01/05/2016 Chromosome, Blood, Limited G-Band
05/21/2015 Chromosome, Blood, Newborn Less Than 21 Days
05/21/2015 Chromosome, Blood, Sex Chromosome Study
10/08/2015 Chromosome, Skin/POC (Fairview)
05/21/2015 Chromosomes, Blood (ANW)
05/21/2015 Chromosomes, Blood, High Resolution (ANW)
03/13/2014 Chromosomes, Blood, High Resolution (Fairview University)
12/07/2015 Chromosomes, Bone Marrow
05/21/2015 Chromosomes, Leukemic Blood (ANW)
05/21/2015 Chromosomes, Leukemic Blood (Fairview)
12/07/2015 Chromosomes, Malignant Tissue (Fairview University)
03/13/2014 Chromosomes, Placenta/Tissue (ANW)
01/31/2013 Chromosomes, Skin/Tissue (ANW)
08/03/2015 Chromosomes, Tissue, Process and Hold
03/13/2014 Cilia Biopsy
05/21/2015 COL11A1 Deletion/Duplication HDT Array
05/19/2015 COL11A1 Gene Sequencing
04/14/2015 COL11A2 Deletion/Duplication HDT Array
05/21/2015 COL11A2 Gene Sequencing
05/21/2015 COL2A1 Deletion/Duplication HDT Array
05/18/2015 COL2A1 Gene Sequencing
08/19/2015 Comparative Genomic Hybridization (CGH)
11/10/2015 Comparative Genomic Hybridization (CGH) with Limited High Resolution G-Bands
12/02/2015 Comprehensive Epilepsy Panel
05/21/2015 Congenital Adrenal Hypoplasia (DAX1/NROB1) Sequencing
06/04/2015 Congenital Hyperinsulinism Evaluation Sequencing
04/15/2015 Connexin 26 (GJB2) Known Mutation
04/15/2015 Connexin 26/30 Mutation
04/15/2015 Connexin 30 (GJB6) Known Mutation
03/13/2014 Copper Liver, Tissue
05/21/2015 Craniodysmorphology (FGFR) Full Panel with TWIST Sequencing
03/06/2014 CYP11B1 (CAH) Sequencing
04/10/2017 CYP21A2 (CAH) Evaluation Sequencing
02/05/2013 CYP21A2 (CAH) Known Sequencing
11/03/2017 Cytochrome P450 2C19 Sequencing
11/03/2017 Cytochrome P450 2C9 Sequencing
03/13/2014 Cytology, Herpes
03/13/2014 Cytology, Urine
03/13/2014 Cytology, Washings
D
10/02/2014 Diamond Blackfan Anemia (RPS19) Known Mutation
10/02/2014 Diamond Blackfan Anemia (RPS19) Sequencing
05/21/2015 DiGeorge 2
05/26/2015 DiGeorge Syndrome/VCF FISH, Blood (Fairview)
05/21/2015 DiGeorge VCF Catch 22 Microdeletion FISH (22q11)
09/24/2013 Disaccharidase on GI Biopsies
09/19/2013 DNA Marker Pre BMT Engraftment
E
04/14/2015 Ehlers-Danlos (EDS) (COL3A1) Type IV Sequencing
04/14/2015 Ehlers-Danlos (EDS) Type I/II Sequencing
06/04/2015 Ehlers-Danlos (EDS) Type I/II Deletion/Duplication 1st Gene
06/04/2015 Ehlers-Danlos (EDS) Type I/II Deletion/Duplication 2nd Gene
06/04/2015 Ehlers-Danlos (EDS) Type IV Deletion/Duplication
09/15/2017 Electron Microscopy (Mayo)
03/13/2014 Electron Microscopy, Tissue (HCMC)
06/01/2017 Electron Microscopy, Whole Blood
04/25/2016 Expanded RASopathy Panel (14 Genes)
F
12/07/2015 Fanconi Anemia
11/12/2014 Fatty Acid Oxidation Probe, Fibroblasts
04/14/2015 FBN1 Deletion/Duplication HDT Array
02/05/2013 Fibroblast Culture, Tissue
08/13/2013 FISH Aneuploidy/Perinatal Probe
02/05/2013 FISH to Fairview University (Specify Disease Type)
02/05/2013 FLT3 Assay, Qualitative
08/02/2015 Fragile X Molecular Analysis (Mayo)
06/02/2015 Friedreich Ataxia (FRDA)
G
03/13/2014 GAA Enzyme Activity
11/18/2016 Galactosemia Gene Analysis 14 Panel
11/18/2016 GALT Full Gene Analysis
02/06/2013 Gene Rearrangement, B Cell, Blood
02/06/2013 Gene Rearrangement, T Cell, Blood
02/06/2013 Gene Rearrangement, T&B Cells, Blood
02/12/2013 Gene Rearrangement, T&B Cells, Bone Marrow
H
08/02/2015 Hemochromatosis (HFE) Sequencing
10/02/2014 Hereditary Multiple Exostoses (EXT1 & EXT2 Concurrently) Sequencing
10/02/2014 Hereditary Multiple Exostoses (EXT1) Known Mutation
10/02/2014 Hereditary Multiple Exostoses (EXT1) Sequencing
10/02/2014 Hereditary Multiple Exostoses (EXT2) Known Mutation
10/02/2014 Hereditary Multiple Exostoses (EXT2) Sequencing
10/02/2014 Holt Oram (TBX5) Known Mutation
10/02/2014 Holt Oram (TBX5) Sequencing
08/07/2014 HPV Typing to Mayo, Tissue
I
02/12/2013 Iron, Liver Tissue
K
10/02/2014 Kallman Syndrome (KAL1) Sequencing
02/12/2013 Kidney Biopsy, Routine Surgical Pathology
L
08/14/2013 Lactase on GI Biopsies
04/27/2017 Long QT Syndrome Panel
01/18/2016 Loss of Heterozygosity (LOH) Wilms Tumor
M
06/04/2015 Marfan Syndrome (FBN1) Known Mutation
06/04/2015 Marfan Syndrome (FBN1) Type I Sequencing
06/04/2015 Marfan Syndrome (FBN1/TGFBR2)Types I and II Sequencing
05/19/2015 Marfan Syndrome (TGFBR2) Type II Sequencing
02/23/2017 Melas Syndrome (MTTL1) Sequencing
04/22/2015 Mitochondrial (mtDNA) DNA Point Mutation & Deletion Screen
02/07/2013 MTHFR Genotype
10/02/2014 Multiple Endocrine Neoplasia Type 1 (MEN1) Known Mutation
10/02/2014 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing
10/02/2014 Multiple Endocrine Neoplasia Type 2A (RET) Known Mutation
10/02/2014 Multiple Endocrine Neoplasia Type 2A (RET) Sequencing
10/02/2014 Multiple Endocrine Neoplasia Type 2B (RET) Known Mutation
10/02/2014 Multiple Endocrine Neoplasia Type 2B (RET) Sequencing
06/04/2015 Multiple Epiphyseal Dysplasia Known Mutation
06/04/2015 Multiple Epiphyseal Dysplasia Sequencing
01/18/2016 Multiplex RT-PCR Fusion Detection IN Ph-LIKE B-ALL
08/11/2016 Muscle Biopsy
02/07/2013 Myotonic Dystrophy
N
02/23/2017 N Glycan Structural Analysis CDGS
10/07/2014 Nerve Biopsy
04/08/2014 Neurofibromatosis Type 1 (NF1) Known Mutation
01/11/2017 Neurofibromatosis Type 1 (NF1) Sequencing
04/08/2014 Neurofibromatosis Type1-Like (SPRED1) Known Mutation
04/08/2014 Neurofibromatosis Type1-Like (SPRED1) Sequencing
04/08/2014 Neurofibromatosis Type2 (NF2) Known Mutation
01/11/2017 Neurofibromatosis Type2 (NF2) Sequencing & Deletion/Duplication
03/02/2017 NF1 Sequencing & Deletion/Duplication
04/15/2015 Nonsyndromic Hearing Loss (OTOF - DFNB9) Known Mutation
04/15/2015 Nonsyndromic Sensorineural Deafness (MTTS1 - A7445G) Known Mutation
O
09/25/2017 OneOme RightMed Pharmacogenetics
06/04/2015 Osteogenesis Imperfecta (COL1A1/COL1A2) Sequencing
06/09/2016 OtoGenome Test for Hearing Loss
P
04/13/2015 Pap Thin Prep
08/25/2016 Pap Thin Prep-2
04/15/2015 Pendred Syndrome (SLC26A4) Known Mutation
11/03/2017 Pharmacoscan Panel
10/07/2014 PHOX2B Full Gene Sequence
11/17/2015 Platelet Transmission Electron Microscopy
06/04/2015 PMP22 Deletion/Duplication
05/19/2015 Polycystic Kidney Disease (PKD1/PKD2) Sequencing
10/02/2014 Popliteal Pterygum Syndrome (IRF6 Exon 4 Only) Sequencing
02/07/2013 Postmortem Screening
08/13/2015 Prader-Willi Microdeletion FISH (15Q11-13)
08/02/2015 Prader-Willi/Angelman Syndrome Molecular Analysis Methylation
01/12/2016 Primary Ciliary Dyskinesia Panel
R
01/20/2017 Rapid (Expedited) Whole Exome Sequencing - TRIO (WES)
04/22/2015 Rett Syndrome (CDKL5) Sequencing
10/02/2014 Rett Syndrome (MECP2) Sequencing
04/22/2015 Rett Syndrome Microdeletion Analysis
02/23/2017 Russell Silver Syndrome: H19 Methylation & UPD7
S
02/11/2013 SHOX Gene Sequencing
10/02/2014 Shwachman Diamond Syndrome (SBDS) One Known Mutation
10/02/2014 Shwachman Diamond Syndrome (SBDS) Sequencing
10/02/2014 Shwachman Diamond Syndrome (SBDS) Two Known Mutations
02/11/2013 Sotos Syndrome (NSD1) Deletion/Duplication
02/11/2013 Sotos Syndrome (NSD1) Sequencing
02/27/2012 Specimen Submission for Gross/Microscopic Exam to the Pathology Dept
02/11/2013 Spinal Muscular Atrophy Evaluation
06/04/2015 Stickler or Marshall Syndrome (COL2A1/COL11A1) Sequencing
10/16/2013 Surgical Pathology Consultation
T
05/13/2015 TGFBR1 & TGFBR2 Gene Sequencing
04/14/2015 TGFBR1 Deletion/Duplication HDT Array
05/21/2015 TGFBR1 Gene Sequencing
05/18/2015 TGFBR2 Deletion/Duplication HDT Array
10/02/2014 Townes-Brocks Syndrome (SALL1) Known Mutation
10/02/2014 Townes-Brocks Syndrome (SALL1) Sequencing
11/03/2017 TPMT/NUDT15/CEP72 Panel
04/15/2014 Tuberous Sclerosis (TSC1) Known Mutation
01/11/2017 Tuberous Sclerosis (TSC1/TSC2) Complex Sequencing & Deletion/Duplication
04/15/2014 Tuberous Sclerosis (TSC2) Known Mutation
U
04/14/2015 UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing, Hyperbilirubinemia
05/21/2015 UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing, Irinotecan Sensitivity
01/15/2013 Uniparental Disomy Chromosome 14
02/11/2013 Uniparental Disomy Chromosome 15
02/11/2013 Uniparental Disomy Chromosome 6
02/11/2013 Uniparental Disomy Chromosome 7
V
10/02/2014 Van der Woude Syndrome (IRF6) Known Mutation
10/02/2014 Van der Woude Syndrome (IRF6) Sequencing
W
01/20/2017 Whole Exome Sequencing - Trio (WES)
05/21/2015 Williams Syndrome FISH Microdeletion (7q11.2)
06/02/2015 Wolfram Syndrome (WFS1) Known Mutation
X
04/14/2015 X-Linked Adrenoleukodystrophy (ABCD1) Sequencing
06/02/2015 X-Linked Deafness (POU3F4) Known Mutation
10/02/2014 X-Linked Hydrocephalus (L1CAM) Known Mutation
10/02/2014 X-Linked Hydrocephalus (L1CAM) Sequencing
10/07/2014 X-Linked Hypophosphatemia (PHEX) Sequencing