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Neurogenetics Diagnostic Laboratory:
Medical professionals and researchers both in- and outside of Massachusetts General Hospital use our services to help diagnose their patients, and conduct research on rare neurodegenerative disorders.
In most cases, The Neurogenetics DNA Diagnostic Laboratory is the only U.S. laboratory conducting testing for the rarer disorders. Some of our test protocols have been developed directly from the Massachusetts General Hospital research laboratories that are actively working in these areas. We maintain a close working affiliation with these laboratories, which continually keeps our technology and interpretation up to date.
We support ongoing translational research in Norrie disease, NCL diseases, dystonia disorders and amyotrophic lateral sclerosis (ALS) disorders.
For complete information about our services please visit the Neurogenetics DNA Diagnostic Laboratory web site.
Amyotrophic lateral sclerosis (ALS) is a terminal neurological disorder characterized by progressive degeneration of nerve cells in the spinal cord and brain.
Dystonia is a movement disorder that causes involuntary muscle contraction and forces certain body parts, such as limbs, hands, face and/or neck, into abnormal positions.
Fabry disease is a rare genetic disorder, seen in all ethnic groups, caused by a deficiency of a lysosomal enzyme.
Gaucher disease is an inherited lysosomal storage disorder.
Huntington’s disease (HD) is a progressive, inherited, neurodegenerative disease that affects muscle coordination and results in movement, cognitive and psychiatric disorders.
Parkinson's disease (PD or, simply, Parkinson's) is a slowly progressing, degenerative disease that is associated with symptoms such as tremor or trembling of the arms, jaw, legs and face, stiffness or rigidity of the limbs and trunk, bradykinesia (slowness of movement), postural instability or impaired balance and coordination.
Neurogenetics DNA Diagnostic Lab
Charles River Plaza, North Building
Neurogenetics DNA Diagnostic LaboratoryCharles River Plaza, North Building5th Floor, Suite 5240Mailcode: CPZ 185 5-5240Massachusetts General Hospital185 Cambridge StreetBoston, MA 02114
Laboratory MembersElike Kumahia, Research Coordinator (Primary Contact)E-mail: email@example.com Phone: 617-726-5721Winnie Xin, PhD, DirectorE-mail: firstname.lastname@example.orgCharles River Plaza, North Building
Patient Appointments & Clinical OfficeNeurogenetics ProgramClinic & Research Coordinator: Elike KumahiaE-mail: email@example.com Phone: 617-726-5732
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