Lab Test Directory

Pathology


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Date
Published
Document Title

07/10/2013   (PDF)Achondroplasia or Hypochondroplasia (FGR3) Exons 3, 5, 7, 9, 10, 13, 15 Sequencing
01/24/2013   (PDF)Achondroplasia or Hypochondroplasia (FGR3) Rest of Gene Sequencing
01/24/2013   (PDF)Alagille Watson Syndrome (JAG1) Known Mutation
01/24/2013   (PDF)Alagille Watson Syndrome (JAG1) Sequencing
10/09/2013   (PDF)Alexander Disease (GFAP) Sequencing
04/16/2013   (PDF)Alpha Globin Gene Analysis (Sequencing and Del/Dup)
06/12/2013   (PDF)Aminoglycoside-induced Deafness (MTRNR1) Known Mutation
03/13/2014   (PDF)Angelman Microdeletion FISH (15Q11-13)
01/15/2013   (PDF)Angelman Syndrome (UBE3A) Sequencing
01/29/2013   (PDF)Aniridia (PAX6) Known Mutation
01/29/2013   (PDF)Aniridia (PAX6) Sequencing & Deletion/Duplication
03/26/2014   (PDF)Anophthalmia, Microphthalmia (SIX6) Deletion/Duplication
01/29/2013   (PDF)Anophthalmia, Microphthalmia (SIX6) Known Mutation
03/26/2014   (PDF)Anophthalmia, Microphthalmia (SOX2) Deletion/Duplication
01/29/2013   (PDF)Anophthalmia, Microphthalmia (SOX2) Known Mutation
01/29/2013   (PDF)Anophthalmia, Microphthalmia (SOX2) Sequencing
03/13/2014   (PDF)Autopsy and Death Procedures

01/29/2013   (PDF)BCR-abl by Fish, Blood (ANW)
01/29/2013   (PDF)BCR-abl by Fish, Blood/Bone Marrow (Fairview)
01/29/2013   (PDF)BCR-abl by Fish, Bone Marrow (ANW)
08/14/2013   (PDF)BCR-abl by PCR, Qualitative, Blood/Bone Marrow (Mayo)
08/14/2013   (PDF)BCR-abl, p190, Quant Monitor (Mayo)
09/23/2013   (PDF)BCR-abl, p210, RNA Quant, Monitor CML (Mayo)
09/19/2013   (PDF)BCR-abl, Tyrosine Kinase Inhibitor Resistance, Kinase Domain Mutation Screen
01/30/2013   (PDF)Beckwith-Wiedemann Syndrome & Russell-Silver Syndrome Methylation, Blood
06/12/2013   (PDF)Branchio-oto-renal Syndrome (EYA1) Known Mutation
03/13/2014   (PDF)Bronchoalveolar Lavage Cell Count and Differential

02/27/2013   (PDF)CFTR 106 Mutation Panel Sequencing
02/27/2013   (PDF)CFTR Full Gene Sequencing with Deletion/Duplication
02/27/2013   (PDF)CFTR Known Mutation
02/18/2014   (PDF)CGH with SNP Array
03/13/2014   (PDF)Chromosome, Blood, Breakage Syndromes
03/13/2014   (PDF)Chromosome, Blood, Limited G-Band
03/13/2014   (PDF)Chromosome, Blood, Newborn Less Than 21 Days
03/13/2014   (PDF)Chromosome, Blood, Sex Chromosome Study
03/13/2014   (PDF)Chromosomes, Blood (ANW)
03/13/2014   (PDF)Chromosomes, Blood, High Resolution (ANW)
03/13/2014   (PDF)Chromosomes, Blood, High Resolution (Fairview University)
01/30/2013   (PDF)Chromosomes, Bone Marrow
01/30/2013   (PDF)Chromosomes, Leukemic Blood (ANW)
03/13/2014   (PDF)Chromosomes, Leukemic Blood (Fairview)
03/13/2014   (PDF)Chromosomes, Malignant Tissue (Fairview University)
03/13/2014   (PDF)Chromosomes, Placenta/Tissue (ANW)
01/31/2013   (PDF)Chromosomes, Skin/Tissue (ANW)
01/31/2013   (PDF)Chromosomes, Tissue, Process and Hold
03/13/2014   (PDF)Cilia Biopsy
07/10/2013   (PDF)COL11A1 Deletion/Duplication HDT Array
07/10/2013   (PDF)COL11A1 Gene Sequencing
07/10/2013   (PDF)COL11A2 Deletion/Duplication HDT Array
01/31/2013   (PDF)COL11A2 Gene Sequencing
07/10/2013   (PDF)COL2A1 Deletion/Duplication HDT Array
07/10/2013   (PDF)COL2A1 Gene Sequencing
02/04/2013   (PDF)Comparative Genomic Hybridization (CGH)
08/14/2013   (PDF)Complete Myotonic Dystrophy Evaluation Sequencing
02/04/2013   (PDF)Congenital Adrenal Hypoplasia (DAX1/NROB1) Sequencing
10/09/2013   (PDF)Congenital Hyperinsulinism Evaluation Sequencing
10/01/2013   (PDF)Connexin 26 (GJB2) Known Mutation
01/21/2014   (PDF)Connexin 26/30 Mutation
10/01/2013   (PDF)Connexin 30 (GJB6) Known Mutation
03/13/2014   (PDF)Copper Liver, Tissue
02/05/2013   (PDF)Craniosynostosis (FGFR) Full Panel with TWIST Sequencing
02/05/2013   (PDF)CYP21A2 (CAH) Evaluation Sequencing
02/05/2013   (PDF)CYP21A2 (CAH) Known Sequencing
04/16/2013   (PDF)Cytochrome P450 2C19 Sequencing
04/16/2013   (PDF)Cytochrome P450 2C9 Sequencing
03/13/2014   (PDF)Cytology, Herpes
03/13/2014   (PDF)Cytology, Urine
03/13/2014   (PDF)Cytology, Washings

02/05/2013   (PDF)Diamond Blackfan Anemia (RPS19) Known Mutation
03/26/2014   (PDF)Diamond Blackfan Anemia (RPS19) Sequencing
02/05/2013   (PDF)DiGeorge 2
02/05/2013   (PDF)DiGeorge Syndrome/VCF FISH, Blood (Fairview)
02/05/2013   (PDF)DiGeorge VCF Catch 22 Microdeletion FISH (22q11)
09/24/2013   (PDF)Disaccharidase on GI Biopsies
09/19/2013   (PDF)DNA Marker Pre BMT Engraftment

07/18/2013   (PDF)Ehlers-Danlos (EDS) (COL3A1) Type IV Sequencing
07/10/2013   (PDF)Ehlers-Danlos (EDS) Type I/II Sequencing
07/10/2013   (PDF)Ehlers-Danlos (EDS) Type I/II Deletion/Duplication 1st Gene
07/10/2013   (PDF)Ehlers-Danlos (EDS) Type I/II Deletion/Duplication 2nd Gene
07/10/2013   (PDF)Ehlers-Danlos (EDS) Type IV Deletion/Duplication
03/13/2014   (PDF)Electron Microscopy, Tissue (HCMC)
09/23/2013   (PDF)Electron Microscopy, Tissue (Mayo)
02/06/2013   (PDF)Electron Microscopy, WBC
02/06/2013   (PDF)Electron Microscopy, Whole Blood

02/05/2013   (PDF)Fanconi Anemia
07/10/2013   (PDF)FBN1 Deletion/Duplication HDT Array
02/05/2013   (PDF)Fibroblast Culture, Tissue
08/13/2013   (PDF)FISH Aneuploidy/Perinatal Probe
02/05/2013   (PDF)FISH to Fairview University (Specify Disease Type)
02/05/2013   (PDF)FLT3 Assay, Qualitative
04/01/2013   (PDF)Fragile X Molecular Analysis (Mayo)
02/05/2013   (PDF)Friedreich Ataxia (FRDA)

02/06/2013   (PDF)Gene Rearrangement, B Cell, Blood
02/06/2013   (PDF)Gene Rearrangement, T Cell, Blood
02/06/2013   (PDF)Gene Rearrangement, T&B Cells, Blood
02/12/2013   (PDF)Gene Rearrangement, T&B Cells, Bone Marrow

02/06/2013   (PDF)Hemochromatosis (HFE) Sequencing
02/12/2013   (PDF)Hereditary Multiple Exostoses (EXT1 & EXT2 Concurrently) Sequencing
02/06/2013   (PDF)Hereditary Multiple Exostoses (EXT1) Known Mutation
02/06/2013   (PDF)Hereditary Multiple Exostoses (EXT1) Sequencing
02/06/2013   (PDF)Hereditary Multiple Exostoses (EXT2) Known Mutation
02/06/2013   (PDF)Hereditary Multiple Exostoses (EXT2) Sequencing
02/06/2013   (PDF)Holt Oram (TBX5) Known Mutation
03/26/2014   (PDF)Holt Oram (TBX5) Sequencing
09/19/2013   (PDF)HPV Typing to Mayo, Tissue

02/12/2013   (PDF)Iron, Liver Tissue

03/26/2014   (PDF)Kallman Syndrome (KAL1) Sequencing
02/12/2013   (PDF)Kidney Biopsy, Routine Surgical Pathology

08/14/2013   (PDF)Lactase on GI Biopsies
03/13/2014   (PDF)Long QT Syndrome Panel

02/06/2013   (PDF)Marfan Syndrome (FBN1) Known Mutation
02/06/2013   (PDF)Marfan Syndrome (FBN1) Type I Sequencing
07/10/2013   (PDF)Marfan Syndrome (FBN1/TGFBR2)Types I and II Sequencing
08/28/2013   (PDF)Melas Syndrome (MTTL1) Sequencing
06/18/2014   (PDF)Mitochondrial (mtDNA) DNA Point Mutation & Deletion Screen
02/07/2013   (PDF)MTHFR Genotype
02/07/2013   (PDF)Multiple Endocrine Neoplasia Type 1 (MEN1) Known Mutation
02/07/2013   (PDF)Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing
02/07/2013   (PDF)Multiple Endocrine Neoplasia Type 2A (RET) Known Mutation
03/26/2014   (PDF)Multiple Endocrine Neoplasia Type 2A (RET) Sequencing
02/07/2013   (PDF)Multiple Endocrine Neoplasia Type 2B (RET) Known Mutation
02/07/2013   (PDF)Multiple Endocrine Neoplasia Type 2B (RET) Sequencing
02/07/2013   (PDF)Multiple Epiphyseal Dysplasia Known Mutation
07/10/2013   (PDF)Multiple Epiphyseal Dysplasia Sequencing
02/12/2013   (PDF)Muscle Biopsy
02/07/2013   (PDF)Myotonic Dystrophy

03/13/2014   (PDF)Nerve Biopsy
04/08/2014   (PDF)Neurofibromatosis Type 1 (NF1) Known Mutation
04/08/2014   (PDF)Neurofibromatosis Type 1 (NF1) Sequencing
04/08/2014   (PDF)Neurofibromatosis Type1-Like (SPRED1) Known Mutation
04/08/2014   (PDF)Neurofibromatosis Type1-Like (SPRED1) Sequencing
04/08/2014   (PDF)Neurofibromatosis Type2 (NF2) Known Mutation
04/08/2014   (PDF)Neurofibromatosis Type2 (NF2) Sequencing & Deletion/Duplication
06/12/2013   (PDF)Nonsyndromic Hearing Loss (OTOF - DFNB9) Known Mutation
06/12/2013   (PDF)Nonsyndromic Sensorineural Deafness (MTTS1 - A7445G) Known Mutation
01/21/2014   (PDF)Noonan Spectrum Chip

07/10/2013   (PDF)Osteogenesis Imperfecta (COL1A1/COL1A2) Sequencing
01/21/2014   (PDF)OtoGenome Test for Hearing Loss

02/07/2013   (PDF)Pap Thin Prep
06/12/2013   (PDF)Pendred Syndrome (SLC26A4) Known Mutation
10/09/2013   (PDF)PMP22 Deletion/Duplication
03/06/2014   (PDF)Polycystic Kidney Disease (PKDX) Sequencing
02/07/2013   (PDF)Popliteal Pterygum Syndrome (IRF6 Exon 4 Only) Sequencing
02/07/2013   (PDF)Postmortem Screening
02/07/2013   (PDF)Prader-Willi Microdeletion FISH (15Q11-13)
02/07/2013   (PDF)Prader-Willi/Angelman Syndrome Molecular Analysis Methylation
02/07/2013   (PDF)Pseudoachondroplasia (COMP) Known Mutation
02/07/2013   (PDF)Pseudoachondroplasia (COMP) Sequencing

10/09/2013   (PDF)Rett Syndrome (CDKL5) Sequencing
10/09/2013   (PDF)Rett Syndrome (MECP2) Sequencing
10/09/2013   (PDF)Rett Syndrome Microdeletion Analysis
02/11/2013   (PDF)Rubenstein Taybi Syndrome (CREBBP & EP300) Comprehensive Sequencing
03/13/2014   (PDF)Russell Silver Syndrome: H19 Methylation & UPD7

02/11/2013   (PDF)SHOX Gene Sequencing
02/11/2013   (PDF)Shwachman Diamond Syndrome (SBDS) One Known Mutation
02/11/2013   (PDF)Shwachman Diamond Syndrome (SBDS) Sequencing
02/11/2013   (PDF)Shwachman Diamond Syndrome (SBDS) Two Known Mutations
02/11/2013   (PDF)Sotos Syndrome (NSD1) Deletion/Duplication
02/11/2013   (PDF)Sotos Syndrome (NSD1) Sequencing
02/27/2012   (PDF)Specimen Submission for Gross/Microscopic Exam to the Pathology Dept
02/11/2013   (PDF)Spinal Muscular Atrophy Evaluation
07/10/2013   (PDF)Stickler or Marshall Syndrome (COL2A1/COL11A1) Sequencing
10/16/2013   (PDF)Surgical Pathology Consultation

07/10/2013   (PDF)TGFBR1 & TGFBR2 Gene Sequencing
07/10/2013   (PDF)TGFBR1 Deletion/Duplication HDT Array
02/11/2013   (PDF)TGFBR1 Gene Sequencing
07/10/2013   (PDF)TGFBR2 Deletion/Duplication HDT Array
02/11/2013   (PDF)TGFBR2 Gene Sequencing
02/11/2013   (PDF)Townes-Brocks Syndrome (SALL1) Known Mutation
02/11/2013   (PDF)Townes-Brocks Syndrome (SALL1) Sequencing
02/11/2013   (PDF)Treacher Collins Syndrome (TCOF1) Sequencing
04/15/2014   (PDF)Tuberous Sclerosis (TSC1) Known Mutation
04/15/2014   (PDF)Tuberous Sclerosis (TSC1/TSC2) Complex Sequencing & Deletion/Duplication
04/15/2014   (PDF)Tuberous Sclerosis (TSC2) Known Mutation

02/11/2013   (PDF)UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing, Hyperbilirubinemia
02/11/2013   (PDF)UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing, Irinotecan Sensitivity
01/15/2013   (PDF)Uniparental Disomy Chromosome 14
02/11/2013   (PDF)Uniparental Disomy Chromosome 15
02/11/2013   (PDF)Uniparental Disomy Chromosome 6
02/11/2013   (PDF)Uniparental Disomy Chromosome 7

02/11/2013   (PDF)Van der Woude Syndrome (IRF6) Known Mutation
02/11/2013   (PDF)Van der Woude Syndrome (IRF6) Sequencing

03/13/2014   (PDF)Williams Syndrome FISH Microdeletion (7q11.2)
06/12/2013   (PDF)Wolfram Syndrome (WFS1) Known Mutation

10/09/2013   (PDF)X-Linked Adrenoleukodystrophy (ABCD1) Sequencing
06/12/2013   (PDF)X-Linked Deafness (POU3F4) Known Mutation
02/11/2013   (PDF)X-Linked Hydrocephalus (L1CAM) Known Mutation
03/26/2014   (PDF)X-Linked Hydrocephalus (L1CAM) Sequencing
03/26/2014   (PDF)X-Linked Hypophosphatemia (PHEX) Sequencing




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