DNA strands illustration for Mass General Neurogenetics DNA Diagnostic Laboratory

Neurogenetics DNA Diagnostic Laboratory Core

The Neurogenetics DNA Diagnostic Laboratory at Massachusetts General Hospital conducts standard-setting molecular DNA diagnostic testing for over 25 rare neurodegenerative disorders.

Phone: 617-726-5721

Neurogenetics Program



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:

  • CLIA certification: Our lab meets all standards set by the U.S. government through the Clinical Laboratory Improvement Amendments (CLIA) program.
  • CLIA Laboratory Certificate of Accreditation resources for researchers: Geneticists from this and affiliated labs at Mass General offer consultations for laboratory test protocol development and activation for other Partners and Mass General research labs. We also give referrals to other labs that are looking for atypical cases of the disorders they study.
  • Harvard Medical School teaching affiliation: Our lab is a teaching site for the Harvard Molecular Genetics, Clinical Genetics and Molecular Genetic Pathology fellowship programs.

Diagnostic Testing

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).

Group Members

Winnie Xin, PhD, Director
Email: wxin@mgh.harvard.edu
Charles River Plaza, North Building

Kathryn J. Swoboda, MD, Co-Director
Email: kswoboda@mgh.harvard.edu
Charles River Plaza, North Building

Lab Coordinator can be reached at 617-726-5721.


Lab Home| Services

Please Note:

  • We are no longer performing or accepting samples for ENZYME testing for either LAL or Fabry.
  • We have decided to stop accepting samples for the PPT1 and TPP1 enzyme test as of March 1, 2017.

Price ListView CPT codes, test turn-around times and prices.

Tests by Disease or Disorder

Familial Amyotrophic Lateral Sclerosis

  • Familial Amyotrophic Lateral Sclerosis (FALS; SOD1)
  • Familial Amyotrophic Lateral Sclerosis (C9orf72)
  • Familial Amyotrophic Lateral Sclerosis  (TARDBP)
  • Familial Amyotrophic Lateral Sclerosis (ANG)
  • Familial Amyotrophic Lateral Sclerosis (FUS/TLS)
  • Familial Amyotrophic Lateral Sclerosis Extended Panel (ANG, TARDBP and FUS/TLS)
  • Familial Amyotrophic Lateral Sclerosis 8 (ALS8; VAPB)


  • Dopa Responsive Dystonia (DRD; GCH1)
  • Dopa Responsive Dystonia (DRD; DYT5, GCH1)
  • Dystonia (DYT1; TOR1A)
  • Myoclonus-Dystonia (MD; DYT11, SGCE)
  • DYT6 (THAP1)
  • Rapid Onset Dystonia Parkinsonism (RDP; DYT12, ATP1A3)
  • DYT25 (GNAL)

Huntington’s Disease (HD)

Periodic Paralysis

  • Hyperkalemic Periodic Paralysis (HYPP; SCN4A)
  • Hypokalemic Periodic Paralysis (HOPP; CACNA1S)
  • Hypokalemic Periodic Paralysis Type 2 (HOPP-2; SCN4A)
  • Normokalemic Periodic Paralysis (SCN4A E13)
  • Paramyotonia Congenita (PMC, SCN4A)

Neurofibromatosis type 2 (NF2) [mutation screening; linkage]

Neurofibromatosis (NF2) MLPA-deletion/duplication


  • Hereditary Sensory Neuropathy (HSN1; SPTLC1)
  • Hereditary Sensory Neuropathy 1C (HSN1C; SPTLC2)
  • Hereditary Sensory and Autonomic Neuropathy (HSN2A; HSAN2)
  • Hereditary Sensory and Autonomic Neuropathy (HSN2B, FAM134)
  • Familial Dysautonomia (HSAN III; IKBKAP)
  • Small Fiber Neuropathy (SCN9A)

Neuronal Ceroid Lipofuscinoisis (NCL)

  • INCL (Infantile; CLN1)
  • INCL (Infantile; CLN1, PPT1)
  • LINCL Classic (Late Infantile; CLN2, TPP1)
  • JNCL (Juvenile; CLN3)
  • CLN4 (AD, DNAJC5)
  • LINCL Variant (CLN 5)
  • LINCL Variant (CLN 5) MLPA
  • LINCL Variant (CLN6)
  • LINCL Variant (CLN 7, MFSD8)
  • EPMR (CLN8)
  • Congenital NCL (Cathepsin D, CLN10, CTSD,)
  • CLN 11 (GRN)
  • CLN 12 (ATP13A2)
  • CLN 13 (CTSF)
  • CLN 14 (KCTD7)

Alternating Hemiplegia in Childhood (AHC; ATP1A3)

Norrie disease (NDP)

Frizzled-4 (FZD4)

Parkinson Disease

  • Parkinson, autosomal recessive (Park2; Parkin)
  • Parkinson, autosomal dominant (Park8; LRRK2)  

Tuberous Sclerosis

  • Tuberous Sclerosis (TSC1 and TSC2)

Fabry Disease (GLA)

Lysosomal Acid Lipase deficiency (LAL, LIPA)

Paternity and Identity

Mucolipidosis type 4 (MLIV, MCOLN1)

See our Sample Preparation (PDF) document for details about the types of samples required for tests, and handling and shipping instructions.

Laboratory/Research Coordinator

Our Lab Coordinator can be reached at 617-726-5721.

Fee Schedule

Fee Schedule

The fee schedule includes CPT codes, turn-around times, and prices.

Payment Policy

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.

Payment Options

Please select from one of the following options for payment.

For Patients

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.


Getting Started

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

  • Patient Name
  • Date of draw/culture
  • Disease
  • Include a clinical summary and family pedigree when/if possible.

Shipping Information:

  • Ship at room temperature and by overnight mail (No weekend delivery, please)
  • Ship to: Neurogenetics DNA Diagnostic Lab
    Massachusetts General Hospital
    Simches Research Bldg., 5-300
    185 Cambridge Street
    Boston, MA 02114

Blood Samples

  • Collect blood samples into two 8ml purple-top EDTA or yellow-top ACD tubes for adults or two 5ml tubes for infants or small children
  • Gently invert three to four times
  • Keep the samples at room temperature

Extracted DNA

  • We require 100 nanograms per micro liter and we need at least 50 micro liters for testing.

Tumor Samples

  • We prefer to process snap frozen tissue to be sent to us on dry ice. We require at least 0.5 gm of frozen tissue if possible. Alternatively, we can attempt to obtain DNA from previously fixed and paraffin embedded samples. In this case, please send Tumor blocks [we will return blocks after taking shavings]. We are able to obtain Useable DNA from fixed/paraffin embedded samples about 50% of the time. Please contact us if you have issues with these requirements.

Prenatal Samples


  • All prenatal samples: send at room temperature via overnight express mail.
  • Maternal blood sample for mcc: 1, 8ml purple-top EDTA tube
  • Blood sample from affected proband: 1, 8ml purple-top EDTA tube
  • Maintain a back-up cell culture (this maybe requested for subsequent testing)
  • Include clinical summary and family pedigree
  • Notify us to expect a sample from you call us to give us a head up of sample coming to us

Fetal Samples

Amniotic Fluid/Cell Culture

  • Amniotic fluid can be used for testing either as direct sample or from cultured cells. Because cell number may be variable, our ability to extract sufficient cell number/ DNA for testing, particularly from amniotic fluid samples taken “early”, may be limited.

 Direct Amniotic Fluid

  • Collect a minimum of 15cc of amniotic fluid
  • Keep the sample on wet ice or other refrigerant

Cell Culture Method (Amniotic Fluid or CVS)

  • Establish a cell culture by standard techniques
  • Grow two T25 flasks to confluency
  • Keep the T25 flasks at room temperature

Pelleted Cell Culture Method (Amniotic Fluid or CVS)

  • From 2 T25 flasks of cultured sample
  • Harvest and pellet the cells into a sterile 15ml centrifuge
  • Use a polypropylene (cloudy) plastic tubes that has been washed in sterile cell culture medium without serum
  • Decant and freeze the sample
  • Pack the cell pellets on dry ice

Direct CVS Sample

  • Collect a minimum of 10mg of CVS sample
  • Keep the sample on wet ice or other refrigerant

Ordering Checklist

  1. Completed a General Requisition Form
  2. Selected a payment method (see Payments page)
  3. Completed the Consent form
  4. Reviewed the sample handling instructions
  5. Use the correct shipping address for the selected test(s)


Contact Us

Neurogenetics DNA Diagnostic Lab

Charles River Plaza, North Building

185 Cambridge Street5th Floor, Suite 5240 Boston, MA 02114
  • Near Public Transit
  • 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

Winnie Xin, PhD, Director
E-mail: xin@helix.mgh.harvard.edu
Charles River Plaza, North Building


Phone: 617-726-5721

Neurogenetics Program

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