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MitoMed News

Up to date information on the new developments and opportunities at MitoMed Clinical Diagnostic Laboratory

MitoMed laboratory accepts Urine samples for molecular tests

The VCP gene has recently been found to be associated with ALS. MitoMed is the first laboratory to offer VCP gene testing

VCP test development was supported by the NIH (National Institute of Health) CETT program. The CETT program encourages clinical laboratory and research collaborations, and supports the electronic collection of genetic and clinical data in public databases to further new research and treatment possibilities. The data collection sheet is included in the VCP requisition and can also be downloaded separately here. Please complete the attached CETT data collection sheet so we may further VCP research. Data will be deidentified before inclusion in any public database.

The MitoMed Diagnostic Lab at UCI is pleased to expand the molecular diagnostic service. The MitoMed Diagnostic Laboratory is one of the finest in the world with respect to mitochondrial disease testing and research. The laboratory currently performs an extensive repertoire of tests relating to mitochondrial diseases. The lab has earned an excellent reputation. MitoMap has a unique and the biggest database (with more than 2700 normal control) which enables us to better interpret data and makes the lab one of the best in the whole world.

Recently, we have expanded the test menu. We are continuing our tests for mitochondrial diseases and expanding to more common conditions. Besides the mitochondria diseases listed in our previous menu, we have added three panels including hearing loss, congenital heart disease and Prader-Willi and Angelman syndrome.

Hearing loss is very common in the pediatric population and genetics plays an important role in this condition. In our list, we have added some non-syndromic hearing loss, in which hearing loss is the only clinical symptom. We included Connexin 26 and Connexin 30. We also added a gene for Pendred syndrome. Some of the patients with Pendred syndrome only have hearing loss, while others may have hearing loss along with thyroid dysfunction.

Another panel we have added is congenital heart disease. Congenital heart disease is the number one malformation in humans. About 1% of babies are born with defects in the heart. For this, we have added two genes for non-syndromic congenital heart disease, including GATA-4 and NKX-2.5. We added G4.5 to test Barth Syndrome and cardiac noncompaction. In addition, we also have a test for TBX5, which is a transcription factor. The mutations of TBX5 cause Heart - Hand Syndrome (Holt-Oram syndrome). Noonan syndrome is also very common condition. We will test for PTPN11. Our TBX1 mutation test is very unique. This test will be ordered for the patients with clinical features of DiGeorge/Velocardiofacial syndrome, but in whom the deletion for chromosome 22q11 is negative.