Neurogenetics DNA Diagnostic Laboratory

The Neurogenetics DNA Diagnostic Laboratory conducts standard-setting DNA diagnostic testing for over 25 rare neurodegenerative disorders.

Neurogenetics Diagnostic Laboratory: 617-726-5721

About This Procedure




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.

Conditions & Diseases

  • Amyotrophic Lateral Sclerosis (ALS)

    Amyotrophic lateral sclerosis (ALS) is a terminal neurological disorder characterized by progressive degeneration of nerve cells in the spinal cord and brain.

  • Dystonia

    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

    Fabry disease is a rare genetic disorder, seen in all ethnic groups, caused by a deficiency of a lysosomal enzyme.

  • Gaucher's Disease

    Gaucher disease is an inherited lysosomal storage disorder.

  • Huntington’s disease

    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

    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.


Contact Us

Neurogenetics DNA Diagnostic Lab

Charles River Plaza, North Building

185 Cambridge Street5th Floor, Suite 5240 Boston, MA 02114
  • Near Public Transit
  • Handicapped Accessible
  • Phone: 617-726-5721

Mailing Address

Neurogenetics DNA Diagnostic Laboratory
Charles River Plaza, North Building
5th Floor, Suite 5240
Mailcode: CPZ 185 5-5240
Massachusetts General Hospital
185 Cambridge Street
Boston, MA 02114 

Laboratory Members

Elike Kumahia, Research Coordinator (Primary Contact)
Phone: 617-726-5721

Winnie Xin, PhD, Director
Charles River Plaza, North Building

Patient Appointments & Clinical OfficeNeurogenetics Program
Clinic & Research Coordinator: Elike Kumahia
Phone: 617-726-5732

Neurogenetics Diagnostic Laboratory: 617-726-5721

Back to Top