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