Pathology

Jump To:

A
03/14/2018 Achondroplasia or Hypochondroplasia (FGR3) Exons 3, 5, 7, 9, 10, 13, 15 Sequencing
03/14/2018 Alagille Watson Syndrome (JAG1) Known Mutation
03/14/2018 Alagille Watson Syndrome (JAG1) Sequencing & Deletion/Duplication
03/23/2018 Alexander Disease (GFAP) Sequencing
07/20/2018 Alpha Globin Gene Analysis (Sequencing and Del/Dup)
04/15/2015 Aminoglycoside-induced Deafness (MTRNR1) Known Mutation
07/20/2018 Angelman Microdeletion FISH (15Q11-13)
03/13/2018 Angelman Syndrome (UBE3A) Sequencing
01/29/2018 Aniridia (PAX6) Known Mutation
01/22/2018 Aniridia (PAX6) Sequencing & Deletion/Duplication
01/29/2018 Anophthalmia, Microphthalmia (SOX2) Deletion/Duplication
03/07/2018 Anophthalmia, Microphthalmia (SOX2) Known Mutation
01/29/2018 Anophthalmia, Microphthalmia (SOX2) Sequencing
03/13/2014 Autopsy and Death Procedures
B
07/20/2018 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)
04/06/2018 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
07/20/2018 CFTR Full Gene Sequencing with Deletion/Duplication
07/20/2018 CFTR Known Mutation
04/09/2018 CGH with SNP Array
01/18/2018 Chromosome, Blood, Breakage Syndromes
03/07/2018 Chromosome, Blood, Limited G-Band
02/26/2018 Chromosome, Blood, Newborn Less Than 21 Days
06/19/2018 Chromosome, Blood, Sex Chromosome Study
10/08/2015 Chromosome, Skin/POC (Fairview)
06/19/2018 Chromosomes, Blood (ANW)
01/22/2018 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)
01/22/2018 Chromosomes, Placenta/Tissue (ANW)
01/22/2018 Chromosomes, Skin/Tissue (ANW)
08/03/2015 Chromosomes, Tissue, Process and Hold
03/13/2014 Cilia Biopsy
05/15/2018 COL11A1 Deletion/Duplication HDT Array
05/15/2018 COL11A1 Gene Sequencing
01/18/2018 COL11A2 Deletion/Duplication HDT Array
06/19/2018 COL11A2 Gene Sequencing
06/19/2018 COL2A1 Deletion/Duplication HDT Array
04/16/2018 COL2A1 Gene Sequencing
04/11/2018 Comparative Genomic Hybridization (CGH)
11/10/2015 Comparative Genomic Hybridization (CGH) with Limited High Resolution G-Bands
04/16/2018 Comprehensive Epilepsy Panel
06/19/2018 Congenital Adrenal Hypoplasia (DAX1/NROB1) Sequencing
03/23/2018 Congenital Hyperinsulinism Evaluation Sequencing
04/15/2015 Connexin 26 (GJB2) Known Mutation
03/23/2018 Connexin 26/30 Mutation
04/15/2015 Connexin 30 (GJB6) Known Mutation
01/22/2018 Copper Liver, Tissue
06/19/2018 Craniodysmorphology (FGFR) Full Panel with TWIST Sequencing
01/19/2018 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
02/02/2018 Diamond Blackfan Anemia (RPS19) Known Mutation
01/29/2018 Diamond Blackfan Anemia (RPS19) Sequencing
05/21/2015 DiGeorge 2
07/20/2018 DiGeorge Syndrome/VCF FISH, Blood (Fairview)
06/19/2018 DiGeorge VCF Catch 22 Microdeletion FISH (22q11)
03/23/2018 Disaccharidase on GI Biopsies
04/18/2018 DNA Marker Pre BMT Engraftment
E
02/12/2018 Ehlers-Danlos (EDS) (COL3A1) Type IV Sequencing
02/12/2018 Ehlers-Danlos (EDS) Type I/II Sequencing
02/12/2018 Ehlers-Danlos (EDS) Type I/II Deletion/Duplication 1st Gene
02/12/2018 Ehlers-Danlos (EDS) Type I/II Deletion/Duplication 2nd Gene
02/12/2018 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
01/18/2018 FBN1 Deletion/Duplication HDT Array
01/24/2018 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)
07/20/2018 Friedreich Ataxia (FRDA)
G
01/22/2018 GAA Enzyme Activity
11/18/2016 Galactosemia Gene Analysis 14 Panel
04/18/2018 GALT Full Gene Analysis
01/22/2018 Gene Rearrangement, B Cell, Blood
01/22/2018 Gene Rearrangement, T Cell, Blood
01/22/2018 Gene Rearrangement, T&B Cells, Bone Marrow
H
08/02/2015 Hemochromatosis (HFE) Sequencing
01/22/2018 Hereditary Multiple Exostoses (EXT1 & EXT2 Concurrently) Sequencing
01/23/2018 Hereditary Multiple Exostoses (EXT1) Known Mutation
01/23/2018 Hereditary Multiple Exostoses (EXT1) Sequencing
01/23/2018 Hereditary Multiple Exostoses (EXT2) Known Mutation
01/23/2018 Hereditary Multiple Exostoses (EXT2) Sequencing
02/02/2018 Holt Oram (TBX5) Known Mutation
01/29/2018 Holt Oram (TBX5) Sequencing
I
02/12/2013 Iron, Liver Tissue
K
02/12/2018 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
M
04/17/2018 Marfan Syndrome (FBN1) Known Mutation
04/17/2018 Marfan Syndrome (FBN1) Type I Sequencing
04/17/2018 Marfan Syndrome (FBN1/TGFBR2)Types I and II Sequencing
05/15/2018 Marfan Syndrome (TGFBR2) Type II Sequencing
01/18/2018 Melas Syndrome (MTTL1) Sequencing
04/16/2018 Mitochondrial (mtDNA) DNA Point Mutation & Deletion Screen
03/07/2018 MTHFR Genotype
02/02/2018 Multiple Endocrine Neoplasia Type 1 (MEN1) Known Mutation
02/02/2018 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing
02/02/2018 Multiple Endocrine Neoplasia Type 2A (RET) Known Mutation
03/07/2018 Multiple Endocrine Neoplasia Type 2A (RET) Sequencing
02/02/2018 Multiple Endocrine Neoplasia Type 2B (RET) Known Mutation
03/07/2018 Multiple Endocrine Neoplasia Type 2B (RET) Sequencing
04/17/2018 Multiple Epiphyseal Dysplasia Known Mutation
05/15/2018 Multiple Epiphyseal Dysplasia Sequencing
08/11/2016 Muscle Biopsy
02/07/2013 Myotonic Dystrophy
N
02/23/2017 N Glycan Structural Analysis CDGS
01/22/2018 Nerve Biopsy
06/13/2018 Neurofibromatosis Type 1 (NF1) Known Mutation
06/13/2018 Neurofibromatosis Type 1 (NF1) Sequencing
06/13/2018 Neurofibromatosis Type1-Like (SPRED1) Known Mutation
06/13/2018 Neurofibromatosis Type2 (NF2) Known Mutation
01/11/2017 Neurofibromatosis Type2 (NF2) Sequencing & Deletion/Duplication
06/13/2018 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
03/07/2018 Osteogenesis Imperfecta (COL1A1/COL1A2) Sequencing
06/09/2016 OtoGenome Test for Hearing Loss
P
01/18/2018 Pap Thin Prep
03/23/2018 Pendred Syndrome (SLC26A4) Known Mutation
04/18/2018 Pharmacoscan Panel
04/06/2018 PHOX2B Full Gene Sequence
11/17/2015 Platelet Transmission Electron Microscopy
03/23/2018 PMP22 Deletion/Duplication
05/15/2018 Polycystic Kidney Disease (PKD1/PKD2) Sequencing
01/23/2018 Popliteal Pterygum Syndrome (IRF6 Exon 4 Only) Sequencing
01/22/2018 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)
03/23/2018 Rett Syndrome (CDKL5) Sequencing
10/02/2014 Rett Syndrome (MECP2) Sequencing
04/22/2015 Rett Syndrome Microdeletion Analysis
01/19/2018 Russell Silver Syndrome: H19 Methylation & UPD7
S
01/18/2018 SHOX Gene Sequencing
02/02/2018 Shwachman Diamond Syndrome (SBDS) One Known Mutation
02/02/2018 Shwachman Diamond Syndrome (SBDS) Sequencing
02/02/2018 Shwachman Diamond Syndrome (SBDS) Two Known Mutations
03/07/2018 Sotos Syndrome (NSD1) Deletion/Duplication
03/07/2018 Sotos Syndrome (NSD1) Sequencing
02/27/2012 Specimen Submission for Gross/Microscopic Exam to the Pathology Dept
03/07/2018 Spinal Muscular Atrophy Evaluation
06/19/2018 Stickler or Marshall Syndrome (COL2A1/COL11A1) Sequencing
01/22/2018 Surgical Pathology Consultation
T
03/20/2018 Target B-ALL Fusion Analysis
04/16/2018 TGFBR1 & TGFBR2 Gene Sequencing
04/14/2015 TGFBR1 Deletion/Duplication HDT Array
05/21/2015 TGFBR1 Gene Sequencing
04/16/2018 TGFBR2 Deletion/Duplication HDT Array
03/07/2018 Townes-Brocks Syndrome (SALL1) Known Mutation
02/12/2018 Townes-Brocks Syndrome (SALL1) Sequencing
04/18/2018 TPMT/NUDT15/CEP72 Panel
06/13/2018 Tuberous Sclerosis (TSC1) Known Mutation
06/13/2018 Tuberous Sclerosis (TSC1/TSC2) Complex Sequencing & Deletion/Duplication
06/13/2018 Tuberous Sclerosis (TSC2) Known Mutation
U
04/06/2018 UGT1A1, Full Gene Sequencing
03/07/2018 Uniparental Disomy Chromosome 14
03/07/2018 Uniparental Disomy Chromosome 15
03/07/2018 Uniparental Disomy Chromosome 6
03/07/2018 Uniparental Disomy Chromosome 7
V
01/29/2018 Van der Woude Syndrome (IRF6) Known Mutation
01/29/2018 Van der Woude Syndrome (IRF6) Sequencing
W
01/20/2017 Whole Exome Sequencing - Trio (WES)
06/19/2018 Williams Syndrome FISH Microdeletion (7q11.2)
04/17/2018 Wilms Tumor, Loss of Heterozygosity (LOH)
06/02/2015 Wolfram Syndrome (WFS1) Known Mutation
X
03/23/2018 X-Linked Adrenoleukodystrophy (ABCD1) Sequencing
06/02/2015 X-Linked Deafness (POU3F4) Known Mutation
03/07/2018 X-Linked Hydrocephalus (L1CAM) Known Mutation
01/29/2018 X-Linked Hydrocephalus (L1CAM) Sequencing
02/12/2018 X-Linked Hypophosphatemia (PHEX) Sequencing