By Jodee Redmond from In the Cloud Copy 

Thermo Fisher Scientific, a world leader in the life sciences community, has announced that it has developed a new test for Gaucher disease. It will examine 420 genes looking for markers for several other disorders as well. The new method combines several tests into one.  Read more here.

What is Gaucher Disease? 

Gaucher disease is an inherited disorder which affects a large number of organs and tissues. Type 1 Gaucher disease (the most common form of the disorder) causes anemia (a low blood cell count), an enlarged liver and spleen, and lung disease. Patients with Type 1 Gaucher disease also bruise easily and experience bone abnormalities including bone pain and arthritis. They also fracture bones easily.  

In Types 2 and 3 Gaucher disease, the disorder attacks the patient’s central nervous system. Along with the symptoms described in Type 1, these patients also may experience symptoms such as seizures, abnormal eye movements, and brain damage.  

There is an even more serious form of the disorder. Symptoms start either in the womb or in babyhood. The infant will exhibit signs like swelling all over the body due to fluid buildup before birth, skin irregularities, facial deformities, and serious neurological deficits. As a result, the majority of infants born with this type of Gaucher disease only live for a few days after birth.  

Single Test to Screen for Multiple Genetic Disorders 

The company’s new test will use synthetic pieces of DNA to make multiple copies of DNA sequences. Only a minute amount of material is needed to begin the process.  

The test kit looks for genetic markers of 418 disorders. These include some which are typically difficult to extract, including those for: 

• 21-hydroxylase deficiency (a disorder of the adrenal glands) 
• Alpha thalassemia (a blood disorder affecting hemoglobin production) 
• Gaucher disease 
• Spinal muscular atrophy (a disorder causing severe muscle weakness) 

Luis A. Alcaraz, Ph.D., the scientific and lab director at Bioarray, a company specializing in diagnostic and research laboratory services, explains that previously, several different platforms were used to carry out the various tests. With the new option developed by Thermo Fisher Scientific, many of the previous tests can be consolidated, which saves a great deal of time in the diagnostic process.  

Dr. Alcaraz went on to explain that since Carrier Reporter Software is user-friendly, the laboratory technicians can perform analyses with confidence, preparing customized reports without delay.  

Patients Benefit from New Testing Procedures 

What does all this mean for patients? To explain briefly, a single test will allow medical practitioners to look at over 400 genes simultaneously to check for hereditary disorders. This is also a positive step for researchers, according to the company.  

Yan Zhang, vice president and general manager of reproductive health at Thermo Fisher, explains that the CarrierSeq ECS Kit was developed by drawing on the company’s extensive research and development experience in software development, along with panel design, algorithm development, etc. The outcome is a user-friendly solution that customers can easily use in their laboratories for testing purposes.