The Neurogenetics DNA Diagnostic Lab tests for over 25 neurodegenerative disorders. In most cases, we are the only U.S. lab conducting tests for the rarer disorders, making our lab a valuable resource to the medical community around the country and the world.

  • Phone: 617-726-5721
Lab Home | Services | Fee Schedule

Tests by Disease or Disorder

Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig’s disease)

Dystonias

Lysosomal Disease

  • GLA (α-galactosidase A; Fabry) [full sequence]
  • MCOLN1 (Mucolipidosis IV; ML IV) [targeted and full sequence offered]
  • MCOLN1 MLPA-deletion/duplication screen only
  • LIPA (Wolman; CESD; Lysosomal Acid Lipase; LAL) [full sequence]

Huntington’s disease

Periodic Paralysis

Neurofibromatosis

Neuronal Ceroid LipofuscinoisisNCL Disorders Biorepository - Please contact:   Kellie A. Burke, Coordinator
                                                                                         185 Cambridge Street
                                                                                          5th Floor, Suite 5240
                                                                                          Boston, MA 02114
                                                                                          P:  617-726-5721
                                                                                          F:  617-724-9620
                                                                                          Email:  kaburke@partners.org

NCLfeaturesChecklist.pdf

Neuropathies

Norrie disease

  • NDP [full sequencing]
  • NDP MLPA-deletion/duplication (FEMALES ONLY)
  • FZD4 (Frizzled 4) [full sequence]

Parkinson disease

Paternity and Identity

Tuberous Sclerosis

Sample Preparation

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

Laboratory/Research CoordinatorKellie A. Burke
E-mail: kaburke@partners.org
Phone: 617-726-5721