Date
Published |
Document Title |
|
| 07/08/2008 |
(PDF) |
MELAS (MTTL1-A3243G) Syndrome Mutation |
| 07/08/2008 |
(PDF) |
MELAS (MTTL1-A3243G) Syndrome, Known Mutation |
|
| 03/04/2009 |
(PDF) |
11q23 Gene Rearrangement |
|
| 07/08/2008 |
(PDF) |
Aminoglycoside-induced Deafness (MTRNR1) Mutation |
| 07/08/2008 |
(PDF) |
Aminoglycoside-induced Deafness (MTRNR1), Known Mutation |
| 09/23/2009 |
(PDF) |
Angelman Microdeletion FISH (15Q11-13) |
| 05/01/2008 |
(PDF) |
Aniridia (PAX6) Copy Dx Deletion/Duplication Analysis |
| 05/20/2008 |
(PDF) |
Aniridia (PAX6) Gene Sequencing |
| 05/20/2008 |
(PDF) |
Aniridia (PAX6) Gene Sequencing, Known Mutation |
| 05/20/2008 |
(PDF) |
Anophthalmia, Microphthalmia (SIX6) Copy Dx Deletion/Duplication Analysis |
| 05/20/2008 |
(PDF) |
Anophthalmia, Microphthalmia (SIX6) Gene Sequencing |
| 05/20/2008 |
(PDF) |
Anophthalmia, Microphthalmia (SIX6) Gene Sequencing, Known Mutation |
| 03/18/2008 |
(PDF) |
Anophthalmia, Microphthalmia (SOX2) Copy Dx Deletion/Duplication Analysis |
| 05/20/2008 |
(PDF) |
Anophthalmia, Microphthalmia (SOX2) Gene Sequencing |
| 05/20/2008 |
(PDF) |
Anophthalmia, Microphthalmia (SOX2) Gene Sequencing, Known Mutation |
| 03/26/2003 |
(PDF) |
Autopsy and Death Procedures |
|
| 09/23/2009 |
(PDF) |
BCR-abl by Fish, Blood (ANW) |
| 05/02/2008 |
(PDF) |
BCR-abl by Fish, Blood/Bone Marrow (Fairview) |
| 09/23/2009 |
(PDF) |
BCR-abl by Fish, Bone Marrow (ANW) |
| 07/16/2009 |
(PDF) |
BCR-abl by PCR, Qualitative, Blood/Bone Marrow (Mayo) |
| 03/04/2009 |
(PDF) |
BCR-abl by RT-PCR, Quantitative, Blood/Bone Marrow (Fairview) |
| 07/15/2009 |
(PDF) |
BCR-abl, p190, Quant Monitor (Mayo) |
| 07/15/2009 |
(PDF) |
BCR-abl, RNA Quant, Monitor CML (Mayo) |
| 07/15/2009 |
(PDF) |
BCR-abl, Tyrosine Kinase Inhibitor Resistance, Kinase Domain Mutation Screen |
| 01/12/2007 |
(PDF) |
BCR-abl: Philadelphia Chromosome PCR, Blood |
| 01/12/2007 |
(PDF) |
BCR-abl: Philadelphia Chromosome PCR, Bone Marrow |
| 08/11/2006 |
(PDF) |
Beckwith-Wiedemann Syndrome, Blood |
| 07/08/2008 |
(PDF) |
Branchio-oto-renal (EYA1) Syndrome Mutation |
| 07/08/2008 |
(PDF) |
Branchio-oto-renal (EYA1) Syndrome, Known Mutation |
| 03/26/2003 |
(PDF) |
Bronchoalveolar Lavage Cell Count and Differential |
|
| 02/17/2009 |
(PDF) |
CF 508 First to Ambry |
| 02/13/2009 |
(PDF) |
CF Amplified to Ambry |
| 02/17/2009 |
(PDF) |
CF Full Gene to Ambry |
| 10/25/2007 |
(PDF) |
CF Mutation Analysis to Genzyme |
| 09/23/2009 |
(PDF) |
Chromosomes, Blood (ANW) |
| 05/06/2003 |
(PDF) |
Chromosomes, Blood (Fairview University) |
| 09/23/2009 |
(PDF) |
Chromosomes, Blood, High Resolution (ANW) |
| 04/30/2003 |
(PDF) |
Chromosomes, Bone Marrow |
| 12/24/2004 |
(PDF) |
Chromosomes, Leukemic Blood (ANW) |
| 07/15/2009 |
(PDF) |
Chromosomes, Leukemic Blood (Fairview) |
| 05/06/2003 |
(PDF) |
Chromosomes, Malignant Tissue (ANW) |
| 10/25/2004 |
(PDF) |
Chromosomes, Malignant Tissue (Fairview University) |
| 05/06/2003 |
(PDF) |
Chromosomes, Placenta/Tissue (ANW) |
| 05/06/2003 |
(PDF) |
Chromosomes, Skin/Tissue (ANW) |
| 05/02/2003 |
(PDF) |
Chromosomes, Tissue, Process and Hold |
| 11/21/2005 |
(PDF) |
Cilia Biopsy |
| 11/05/2003 |
(PDF) |
COL1A1/COL1A2 Mutation |
| 06/22/2006 |
(PDF) |
Colaris AP - APC Known Mutation |
| 06/22/2006 |
(PDF) |
Colaris AP - Comprehensive |
| 06/22/2006 |
(PDF) |
Colaris AP - MYH Known Mutation |
| 03/26/2009 |
(PDF) |
Comparative Genomic Hybridization (CGH) |
| 05/27/2008 |
(PDF) |
Connexin 26/30 Screening |
| 07/08/2008 |
(PDF) |
Connexin 26/30 Screening, Known Mutation |
| 03/02/2005 |
(PDF) |
Connexin-26 (35delG and 167delT) Mutations |
| 08/10/2006 |
(PDF) |
Copper Liver, Tissue |
| 04/12/2007 |
(PDF) |
Craniosynostosis FGFR Panel |
| 04/09/2007 |
(PDF) |
Craniosynostosis Full Panel with TWIST |
| 09/21/2005 |
(PDF) |
Cytology, Herpes |
| 04/30/2003 |
(PDF) |
Cytology, Urine |
| 04/30/2003 |
(PDF) |
Cytology, Washings |
|
| 05/20/2008 |
(PDF) |
Diamond Blackfan Anemia (RPS19) Gene Sequencing |
| 05/20/2008 |
(PDF) |
Diamond Blackfan Anemia (RPS19) Gene Sequencing, Known Mutation |
| 05/08/2008 |
(PDF) |
DiGeorge 2 |
| 04/28/2009 |
(PDF) |
DiGeorge Syndrome/VCF FISH, Blood (Fairview) |
| 05/12/2008 |
(PDF) |
DiGeorge VCF Catch 22 Microdeletion FISH (22q11) |
| 07/05/2005 |
(PDF) |
Disaccharidase/Lactase on GI Biopsies |
| 09/29/2008 |
(PDF) |
DNA Marker Pre BMT Engraftment |
|
| 02/01/2006 |
(PDF) |
Electron Microscopy, Tissue (HCMC) |
| 02/01/2006 |
(PDF) |
Electron Microscopy, Tissue (Mayo) |
| 10/13/2003 |
(PDF) |
Electron Microscopy, WBC |
| 08/05/2008 |
(PDF) |
Electron Microscopy, Whole Blood |
|
| 11/01/2007 |
(PDF) |
Fanconi Anemia |
| 05/02/2003 |
(PDF) |
Fibroblast Culture, Tissue |
| 10/01/2009 |
(PDF) |
FLT3 Assay, Qualitative |
| 06/04/2009 |
(PDF) |
Fragile X Molecular Analysis (Mayo) |
| 08/05/2008 |
(PDF) |
Friedreich Ataxia (FRDA) |
|
| 01/10/2007 |
(PDF) |
Gene Rearrangement, B Cell, Blood |
| 01/18/2006 |
(PDF) |
Gene Rearrangement, T Cell, Blood |
| 01/10/2007 |
(PDF) |
Gene Rearrangement, T&B Cells, Blood |
| 01/11/2007 |
(PDF) |
Gene Rearrangement, T&B Cells, Bone Marrow |
| 03/26/2003 |
(PDF) |
Gene Rearrangement, T&B Cells, Tissue |
|
| 01/20/2009 |
(PDF) |
Hemochromatosis HFE Gene Analysis |
| 05/20/2008 |
(PDF) |
Hereditary Multiple Exostoses (EXT1 & EXT2 Concurrently) Gene Sequencing |
| 05/20/2008 |
(PDF) |
Hereditary Multiple Exostoses (EXT1) Gene Sequencing |
| 05/20/2008 |
(PDF) |
Hereditary Multiple Exostoses (EXT1) Gene Sequencing, Known Mutation |
| 05/20/2008 |
(PDF) |
Hereditary Multiple Exostoses (EXT2) Gene Sequencing |
| 05/20/2008 |
(PDF) |
Hereditary Multiple Exostoses (EXT2) Gene Sequencing, Known Mutation |
| 05/20/2008 |
(PDF) |
Holt Oram (TBX5) Gene Sequencing |
| 05/20/2008 |
(PDF) |
Holt Oram (TBX5) Gene Sequencing, Known Mutation |
| 09/04/2008 |
(PDF) |
HPV Typing to Mayo, Tissue |
|
| 03/21/2003 |
(PDF) |
Immunofluorescence, Kidney/Tissue |
| 12/26/2006 |
(PDF) |
Iron, Liver Tissue |
|
| 11/16/2004 |
(PDF) |
JAG1 Gene Testing |
| 11/16/2004 |
(PDF) |
JAG1 Gene Testing, Known Mutation |
|
| 11/21/2005 |
(PDF) |
Kidney Biopsy, Routine Surgical Pathology |
|
| 04/21/2006 |
(PDF) |
Marfan Syndrome Known Mutation |
| 04/21/2006 |
(PDF) |
Marfan Syndrome Type I |
| 04/21/2006 |
(PDF) |
Marfan Syndrome Type II |
| 04/21/2006 |
(PDF) |
Marfan Syndrome Types I and II |
| 01/10/2007 |
(PDF) |
Methylation PCR |
| 03/02/2005 |
(PDF) |
Mitochondrial Deafness (mtA1555G) Mutation |
| 08/04/2006 |
(PDF) |
Mitochondrial DNA Battery |
| 02/13/2009 |
(PDF) |
Mitochondrial DNA Panel 1 |
| 02/17/2009 |
(PDF) |
Mitochondrial DNA Panel 2 |
| 07/14/2006 |
(PDF) |
MTHFR Genotype |
| 05/20/2008 |
(PDF) |
Multiple Endocrine Neoplasia Type 1 (MEN1) Gene Sequencing |
| 05/20/2008 |
(PDF) |
Multiple Endocrine Neoplasia Type 1 (MEN1) Gene Sequencing, Known Mutation |
| 05/20/2008 |
(PDF) |
Multiple Endocrine Neoplasia Type 2A (RET) Gene Sequencing |
| 05/20/2008 |
(PDF) |
Multiple Endocrine Neoplasia Type 2A (RET) Gene Sequencing, Known Mutation |
| 05/20/2008 |
(PDF) |
Multiple Endocrine Neoplasia Type 2B (RET) Gene Sequencing |
| 05/20/2008 |
(PDF) |
Multiple Endocrine Neoplasia Type 2B (RET) Gene Sequencing, Known Mutation |
| 05/13/2009 |
(PDF) |
Multiple Epiphyseal Dysplasia Gene Sequencing |
| 05/13/2009 |
(PDF) |
Multiple Epiphyseal Dysplasia Gene Sequencing, Known Mutation |
| 04/30/2003 |
(PDF) |
Muscle Biopsy |
| 02/07/2006 |
(PDF) |
Myotonic Dystrophy |
|
| 03/21/2003 |
(PDF) |
Nerve Biopsy |
| 05/07/2008 |
(PDF) |
Neurofibromatosis Type 1 (NF1) Known Mutation, U of Alabama |
| 05/07/2008 |
(PDF) |
Neurofibromatosis Type 1 (NF1) New Patients, University of Alabama |
| 06/29/2009 |
(PDF) |
Nonsyndromic Hearing Loss (OTOF - DFNB9) Mutation |
| 06/29/2009 |
(PDF) |
Nonsyndromic Hearing Loss (OTOF - DFNB9), Known Mutation |
| 07/08/2008 |
(PDF) |
Nonsyndromic Sensorineural Deafness (MTTS1 - A7445G) Mutation |
| 07/08/2008 |
(PDF) |
Nonsyndromic Sensorineural Deafness (MTTS1 - A7445G), Known Mutation |
| 07/08/2008 |
(PDF) |
Nonsyndromic Sensorineural Deafness (TECTA - AD & AR) Mutation |
| 07/08/2008 |
(PDF) |
Nonsyndromic Sensorineural Deafness (TECTA - AD & AR), Known Mutation |
| 04/17/2009 |
(PDF) |
Noonan Spectrum Chip |
| 04/14/2009 |
(PDF) |
Noonan Syndrome Known Mutation |
|
| 03/20/2003 |
(PDF) |
Pancreatic Enzyme Analysis |
| 05/18/2006 |
(PDF) |
Pap Thin Prep |
| 07/08/2008 |
(PDF) |
Pendred Syndrome (SLC26A4) Known Mutation |
| 07/08/2008 |
(PDF) |
Pendred Syndrome (SLC26A4) Mutation |
| 05/20/2008 |
(PDF) |
Popliteal Pterygum Syndrome (IRF6 Exon 4 Only) Gene Sequencing |
| 12/06/2006 |
(PDF) |
Postmortem Screening |
| 05/12/2008 |
(PDF) |
Prader-Willi Microdeletion FISH (15Q11-13) |
| 01/13/2009 |
(PDF) |
Prader-Willi/Angelman Syndrome Molecular Analysis Methylation |
| 07/03/2008 |
(PDF) |
Pseudoachondroplasia (COMP) Gene Sequencing |
| 07/03/2008 |
(PDF) |
Pseudoachondroplasia (COMP) Gene Sequencing, Known Mutation |
|
| 05/13/2009 |
(PDF) |
Rett Syndrome (CDKL5) Gene Sequencing |
| 05/13/2009 |
(PDF) |
Rett Syndrome (CDKL5) Gene Sequencing, Known Mutation |
| 03/25/2005 |
(PDF) |
Rett Syndrome Microdeletion Analysis |
| 01/18/2007 |
(PDF) |
Rett Syndrome Sequencing Analysis |
|
| 02/26/2007 |
(PDF) |
SHOX-DNA-Dx |
| 05/20/2008 |
(PDF) |
Shwachman Diamond Syndrome (SBDS) Gene Sequencing |
| 05/20/2008 |
(PDF) |
Shwachman Diamond Syndrome (SBDS) Gene Sequencing, One Known Mutation |
| 05/20/2008 |
(PDF) |
Shwachman Diamond Syndrome (SBDS) Gene Sequencing, Two Known Mutations |
| 01/23/2008 |
(PDF) |
SignatureChip Microarray |
| 05/12/2008 |
(PDF) |
Smith Magenis Microdeletion FISH (17p11.2) |
| 03/22/2006 |
(PDF) |
Specimen Submission for Gross/Microscopic Exam to the Pathology Dept |
| 10/30/2008 |
(PDF) |
Spinal Muscular Atrophy Evaluation |
| 11/05/2003 |
(PDF) |
Stickler/Marshall Syndrome |
| 03/20/2003 |
(PDF) |
Surgical Pathology Consultation |
|
| 08/30/2004 |
(PDF) |
Telomeric Individual FISH |
| 05/20/2008 |
(PDF) |
Townes-Brocks Syndrome (SALL1) Gene Sequencing |
| 05/20/2008 |
(PDF) |
Townes-Brocks Syndrome (SALL1) Gene Sequencing, Known Mutation |
| 03/17/2005 |
(PDF) |
Tuberous Sclerosis |
| 08/06/2009 |
(PDF) |
Tuberous Sclerosis (TSC1) Gene Sequencing, Known Mutation |
| 05/13/2009 |
(PDF) |
Tuberous Sclerosis (TSC2) Gene Sequencing, Known Mutation |
|
| 11/05/2003 |
(PDF) |
UBE3A Sequencing |
| 08/10/2009 |
(PDF) |
UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing, Hyperbilirubinemia |
| 12/07/2006 |
(PDF) |
Uniparental Disomy Chromosome 14 |
| 12/07/2006 |
(PDF) |
Uniparental Disomy Chromosome 15 |
| 12/07/2006 |
(PDF) |
Uniparental Disomy Chromosome 6 |
| 12/07/2006 |
(PDF) |
Uniparental Disomy Chromosome 7 |
|
| 05/20/2008 |
(PDF) |
Van der Woude Syndrome (IRF6) Gene Sequencing |
| 05/20/2008 |
(PDF) |
Van der Woude Syndrome (IRF6) Gene Sequencing, Known Mutation |
|
| 05/12/2008 |
(PDF) |
Williams Syndrome FISH Microdeletion (7q11.2) |
| 07/08/2008 |
(PDF) |
Wolfram (WFS1) Syndrome Mutation |
| 07/08/2008 |
(PDF) |
Wolfram (WFS1) Syndrome, Known Mutation |
|
| 07/08/2008 |
(PDF) |
X-Linked Deafness (POU3F4) Known Mutation |
| 07/08/2008 |
(PDF) |
X-Linked Deafness (POU3F4) Mutation |
| 11/16/2004 |
(PDF) |
X-Linked Hydrocephalus |
| 11/16/2004 |
(PDF) |
X-Linked Hydrocephalus, Known Mutation |
