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Tests by Disease or Disorder

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


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


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



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
Phone: 617-726-5721

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