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Molecular diagnostic technologies streamline disease detection

Fig. 1. The new biomarkers addresses the need for early detection and characterisation of kidney toxicity and injury during drug development.

The ability of laboratories to produce swift and accurate disease diagnoses is being helped by a raft of new molecular diagnostic technologies and services.

La capacité des laboratoires à réaliser des diagnostiques des maladies rapides et précis est facilité par tout un tas de nouvelles technologies et services de diagnostique moléculaire.

Dank einer Flut neuer molekular diagnostischer Technologien und Dienste können Labors Krankheiten schneller und genauer diagnostizieren.


thena Diagnostics, a subsidiary of Quest Diagnostics, has

launched new genetic tests to aid the detection of several rare neurological disorders, including hereditary neuropathy, neuromuscular disease, epilepsy and certain movement disorders.

Te tests streamline the diagnostic process by using gene sequencing and bioinformatics to evaluate many clinically-relevant genes with a single blood draw. Test reports provide information to assist clinicians and genetic counsellors in confirming a diagnosis, developing a targeted treatment plan and managing patient care.

Te new services include expanded testing for Charcot-Marie-Tooth disease (CMT), a hereditary motor sensory neuropathy for which early accurate diagnosis is critical to ensure patients avoid contra-indicated medications which can worsen symptoms.

Tey also include DNA sequencing tests for myofibrillar myopathy (MFM), a debilitating disease that

can lead to cardiac and respiratory complications, but which is often confused with CMT and other conditions. Athena provides a broad diagnostic menu for MFM that may help physicians identify the disorder, hastening the use of aggressive supportive care that may maximise functional activity and prolong life expectancy.

In addition, the company is offering new tests for hereditary sensory and autonomic neuropathy (HSAN), hereditary neuralgic amyotrophy (HNA), hypokalemic periodic paralysis (HOKPP), limb girdle muscular dystrophy (LGMD), benign familiar infantile epilepsy and familial paroxysmal kinesigenic dyskinesia (FPKD).

“Te genetic causes of neurological disorders are sometimes difficult to diagnose without reliable tests that are guided by specific clinical phenotypes,” said Joseph J Higgins, medical director for Quest Diagnostics Neurology and Athena Diagnostics. “In addition, overlapping clinical signs and symptoms in certain rare, neurogenetic disorders present a

different challenge for physicians. Te new test services for evaluating epilepsy and neuromuscular disorders will aid physicians in diagnosing these diseases, some of which may be amenable to treatment, and assist in the diagnosis of other potentially affected family members. Te results will also better prepare patients and their families to make informed life decisions based on their health risks.”

Advanced biomarkers Oxford Gene Technology (OGT) has been granted a licence by the Institute of Cancer Research (ICR), London, to further develop and commercialise a new panel of diagnostic and prognostic microRNA biomarkers for prostate cancer.

Te agreement follows a three-year collaboration between OGT and the ICR resulting in the joint discovery of the microRNA biomarkers. Tese markers have wide-ranging potential applications in diagnosis, prognosis, treatment planning and patient monitoring.

Currently, the biomarker prostate- specific antigen (PSA) and a digital rectal examination are used to test for prostate cancer and to determine whether a biopsy is required. However, increasing evidence indicates that PSA may not be an effective screening tool for prostate cancer due to a high false positive rate and an inability to distinguish between more aggressive and indolent cancers.

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