Automated Fecal Occult Blood Test
Beginning July 7th, 2008, the Hematology Laboratory will be offering a new screening test for colorectal cancer. The FOBT (fecal occult blood test) is an automated immunoassay provides several advantages over the guaiac method including: ease of collection, reduction in the number of samples, no dietary restrictions, specificity for human hemoglobin and detection of hemoglobin primarily from the colon and rectum. The automated fecal occult blood test detects the presence of human hemoglobin by immunoassay using a photometric reading of the presence of an antibody-antigen complex.
Refer to: Automated Fecal Occult Blood Test entry in the Laboratory Services Handbook
FLT3 & NPM1 Mutation Detection Assay
As of July 1, 2008 the UIHC Molecular Pathology Laboratory will offer the FLT3 and NPM1 Mutation Detection Assay for three mutations common in acute myeloid leukemia (AML): FLT3 internal tandem duplications (FLT3-ITD), FLT3 point mutations in the tyrosine kinase domain altering Asp835 (FLT3-D835), and 4bp insertions/duplications in exon 12 in the nucleophosmin gene (NPM1). The presence or absence of one or more of these mutations confers important prognostic information for newly diagnosed AML. This test is a qualitative, allele-specific multiplex PCR assay followed by PCR fragment analysis; both wild-type (unaffected) and mutant alleles are detected in genomic DNA samples prepared from whole blood, purified leukocytes, or bone marrow.
Refer to: FLT3 & NPM1 Mutation Detection entry in the Laboratory Services Handbook
Epidermal Growth Factor Receptor (EGFR) Sequencing, Exons 18-21
As of March1, 2008, the UIHC Molecular Pathology Laboratory will add a new gene sequencing test to diagnose somatic EGFR mutation in exons 18-21. These mutations have been shown to be associated with better tumor response, time to progression and overall survival in patients with advanced non-small cell lung cancer who are treated with Gefitinib (Iressa).
Refer to: Epidermal Growth Factor Receptor (EGFR) Sequencing, Exons 18-21 entry in the Laboratory Services Handbook
Chromogenic X
On June 24, 2007, the UIHC Hemostasis Laboratory began offering a chromogenic factor X assay. This assay may be used in monitoring warfarin therapy in patients who have a lupus anticoagulant. This assay may be used due to the concern that INR measurements may not be accurate for patients with this underlying disorder. The chromogenic X assay contains no phospholipids which may interfere with INR testing. The target range is 11-42%.
Reference: Moll S, Ortel TL. Monitoring warfarin therapy in patients with lupus anticoagulants. Ann Int Med 1997;27:177-185.
Refer to: Chromogenic X entry in the Laboratory Services Handbook
POMT2 Sequencing
As of June 22, 2007, the Molecular Pathology Laboratory in the Department of Pathology has added POMT2 gene sequencing to its menu of muscular dystrophy tests. This gene encodes one of the glycosyltransferase enzymes involved in a spectrum of clinical disorders from severe congenital muscular dystrophies with structural brain abnormalities (e.g. Walker-Warburg syndrome and muscle-eye-brain disease) to milder limb-girdle muscular dystrophies. Sequencing of FKRP, POMT1, POMGNT1 and FCMD are already available from this laboratory.
Refer to: POMT2 Sequencing entry in the Laboratory Services Handbook