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Research at Mass General
The Neurogenetics DNA Diagnostic Lab tests for over 25 neurodegenerative disorders, and we expand our services every year, both in volume and diseases tested. In most cases, we are the only U.S. lab conducting testing for the rarer disorders. This exclusivity makes us a valuable resource to the medical community around the country and the world.
Some of our test protocols have been developed directly from the Massachusetts General Hospital research laboratories actively working in these areas. We maintain a close working affiliation with these laboratories, which continually keeps our technology and interpretation up to date.
The Neurogenetics DNA Diagnostic Lab is specifically for cases in which patients have been screened by a neurologist or other medical professional and have, or may have a rare neurogenetic disorder. Patients should not contact us directly.
Certifications and affiliations for the Neurogenetics DNA Diagnostic Lab include:
Since our founding in 1994, we have completed more than 25,000 tests while acting as a local, regional, national and international service to referring physicians and reference labs.
In order to screen negative cases that are important for further research study, we also support ongoing translational research in Norrie disease, NCL diseases, dystonia disorders and amyotrophic lateral sclerosis (ALS) disorders.
CLIA Certified Laboratory
The Neurogenetics DNA Diagnostic Laboratory meets all standards set by the US government through the Clinical Laboratory Improvement Amendments (CLIA) program. Open the certificate:CLIA Laboratory Certificate of Accreditation(PDF).
Winnie Xin, PhD, DirectorEmail: email@example.comCharles River Plaza, North BuildingKathryn J. Swoboda, MD, Co-DirectorEmail: firstname.lastname@example.orgCharles River Plaza, North Building
Lab Coordinator can be reached at 617-726-5721.
Tests by Disease or Disorder
Familial Amyotrophic Lateral Sclerosis
Huntington’s Disease (HD)
Neurofibromatosis type 2 (NF2) [mutation screening; linkage]
Neurofibromatosis (NF2) MLPA-deletion/duplication
Neuronal Ceroid Lipofuscinoisis (NCL)
Alternating Hemiplegia in Childhood (AHC; ATP1A3)
Norrie disease (NDP)
Fabry Disease (GLA)
Lysosomal Acid Lipase deficiency (LAL, LIPA)
Paternity and Identity
Mucolipidosis type 4 (MLIV, MCOLN1)
See ourSample Preparation(PDF) document for details about the types of samples required for tests, and handling and shipping instructions.
Laboratory/Research CoordinatorKellie A. BurkeE-mail:email@example.comPhone: 617-726-5721
The fee schedule includes CPT codes, turn-around times, and prices.
As a not-for-profit diagnostic laboratory, we regret that we do not have the resources to carry the cost associated with insurance reimbursements. We sincerely regret that we cannot accept commercial or managed care insurance, including Medicare and out-of-state Medicaid. Please understand that we also do not exchange any communication with insurance organizations.
We will do all we can to ensure that you have the documentation necessary to complete an insurance reimbursement claim. We will provide you with an itemized invoice when the test is done.
If we receive a sample in the lab without payment, or complete billing information, we will hold the sample without testing until we receive the payment or the required billing information.
Please select from one of the following options for payment.
Patients may prepay with a check or credit card (Visa or Mastercard). After the test is completed, patients can submit the bill and supporting documentation to their insurance plans for reimbursement.
For Medical Practices and Institutions
Institutions may request direct billing. Please send a letter on your institution’s letterhead, and include the name and contact information of the person responsible for payment.
Sample PreparationSample Type: Blood/ Prenatal/ Chorionic Villus Biopsy/ Cell Culture/ Pelleted Cell Culture
Instructions: Please follow the handling, labeling and shipping instructions carefully.
Documentation: Clearly label each sample with the following
Amniotic Fluid/Cell Culture
Direct Amniotic Fluid
Cell Culture Method (Amniotic Fluid or CVS)
Pelleted Cell Culture Method (Amniotic Fluid or CVS)
Direct CVS Sample
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 MembersWinnie Xin, PhD, DirectorE-mail: firstname.lastname@example.orgCharles River Plaza, North Building
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