Molecular Diagnostics

Staffed 24 hours a day, 365 days a year

CLS offers a wide range of molecular-based technologies to improve patient care by providing highly sensitive and specific testing and timely result reporting.

Molecular testing makes it possible not only to diagnose specific genetic, pathogenic,  and oncologic diseases but also to monitor a patient’s disease over time, a feature that allows for timely patient management and treatment decisions. Furthermore, molecular genetic testing provides highly accurate negative-predictive values when screening for genetic mutations in cystic fibrosis and other diseases.

CLS’s molecular diagnostics laboratory offers nucleic acid-based testing for the diagnosis of select genetic, infectious disease and oncologic anomalies including:

• Genetics
• inherited thrombophilia (factor V Leiden and prothrombin or factor II mutations) 
• hereditary hemochromatosis (C282Y, H63D and S65C mutations)
• cystic fibrosis (32 mutations)
• fragile X syndrome
• hereditary hearing loss (connexin 26 sequence analysis)
• MTHFR (C677T and A1298C mutations)
• Spinal muscular atrophy
• Rett syndrome

Infectious Disease

• Bordetella pertussis and Bordetella parapertussis
• Hepatitis B DNA quantification
• Hepatitis C RNA quantification
• Hepatitis C Genotype

Oncology

• JAK2 V617F mutation for myeloproliferative disease
• BCR/ABL1 t(9;22) translocation, qualitative and quantitative

We offer comprehensive molecular testing for hepatitis C virus (HCV) consisting of qualitative, quantitative (viral load), and genotype studies. A real-time PCR assay for quantification of HCV RNA complements our test menu. The advantages of the real-time assay over conventional PCR are its increased sensitivity and broad dynamic range.

We provide a full range of molecular diagnostic and consulting services for adult, pediatric, and prenatal cases. We are committed to provide the highest quality of patient care and serve as competent and easily available consultants to our referring physicians. The molecular diagnostics laboratory staff includes a board-certified medical geneticist, who is available for consultation.

CLS has a strategic alliance with Roche Diagnostics, the world’s leading diagnostics company. CLS, together with Roche, has established a Molecular Center of Excellence (MCOE) for molecular diagnostics and other advanced genomic technologies. Access to Roche’s vast resources has helped CLS bring this emerging technology to our healthcare communities.