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
REQUIRED FOR ALL ORDERS
FORMS
- General Requisition Form
- Test Addition Form
- NCL Checklist
- Sample Preparation
- Consent Form
- Medical Release Form
CREDENTAILS
- CLIA #22DO883928
- New York State #CQP4866
- CLIA Certificate
- NY License, Sims
- NY License Xin
- Maryland License
Tests by Disease or Disorder
Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig’s disease)
- ALS Panel (SOD1, ANG, TARDBP, FUS/TLS [full sequence] VAPB [hot spots only sequence] [full sequence]
- SOD1 (Amyotrophic Lateral Sclerosis; ALS1
- VAPB (ALS8) [full sequencing]
- ANG (ALS9) [full sequencing]
- TARDBP (ALS10) [full gene sequencing]
- FUS/TLS (ALS6) [full gene sequencing]
Dystonias
- GCH1 (Dopa Responsive Dystonia; DYT5) [full gene sequencing and MLPA]
- TORIA (Early-onset Torsion Dystonia; (DYT1) [deletion analysis]
- THAP1 (DYT-6)
- SGCE (Myoclonus-Dystonia; DYT11) [full gene sequencing and MLPA]
- ATP1A3 (Rapid Onset Dystonia-Parkinsonism; RDP, DYT12 [full gene sequencing]
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
- SCN4A Panel (HYPP, HOPP2, NORMO, PMC) [full gene sequencing]
- SCN4A (Hyperkalemic Periodic Paralysis, HYPP) [targeted mutations]
- SCN4A (Hypokalemic Periodic Paralysis 2, HOKPP2) [exon 12 targeted sequence]
- SCN4A (Normokalemic Periodic Paralysis) [exon 13 targeted sequence]
- SCN4A (Paramyotonia Congenita; PMC [targeted sequence]
- CACNA1S (Hypokalemic Periodic Paralysis 1. HOKPP1) [targeted sequence]
Neurofibromatosis
- NF2 [full sequence and mlpa]
- NF2 MLPA-deletion/duplication
- NF2 (linkage)
Neuronal Ceroid Lipofuscinoisis
- Neuronal Ceroid Lipofuscinoisis (NCL) Information
- PPT1(Infantile NCL; INCL; CLN1) [full sequence]
- TPP1 (Late-infantile NCL; cLINCL; CLN 2) [full sequence]
- CLN3 (Juvenile; JNCL) [common deletion done first] [full sequence]
- DNAJC5 (CLN4; autosomal dominant adult-onset; Kufs, Parry type) [full sequence]
- CLN5 (Late-infantile NCL; fLINCL) [full sequence]
- CLN5 MLPA-deletion/duplication [screen only]
- CLN6 (Late-infantile NCL; vLINCL) [full sequence]
- CLN6 MLPA-deletion/duplication [screen only]
- MFSD8 (CLN7) [full sequence]
- CLN8 (EPMR) [full sequence]
- CTSD (Congenital; CLN 10) [full sequence]
- Chloride Channel Genes (CLCN3, CLCN6, CLCN7) [full sequence]
Neuropathies
- SPTLC1 (Hereditary Sensory Neuropathy, type 1A; HSN1A [full sequence]
- SPTLC2 (Hereditary Sensory and Autonomic Neuropathy, type 1C; HSN1C) [full sequence]
- WNK1 (Hereditary Sensory and Autonomic Neuropathy, type IIA; HSN2A [full sequence]
- FAM134B (Hereditary Sensory and Autonomic Neuropahty; HSN2B [full sequence]
- IKBKAP (Familial Dysautonomia; HSAN3) [targeted sequence]
Norrie disease
- NDP [full sequencing]
- NDP MLPA-deletion/duplication (FEMALES ONLY)
- FZD4 (Frizzled 4) [full sequence]
Parkinson disease
- PARK2 (autosomal recessive juvenile parkinsonism; Parkin) [full gene sequencing and MLPA]
- PARK2 MLPA-deletion/duplication screen only
- LRRK2 (autosomal dominant parkinsonism; Park8) Exon 41 [sequence only]
Paternity and Identity
Tuberous Sclerosis
- TSC1 + TSC2(Tuberous Sclerosis) - KNOWN MUTATION ONLY
- TSC1 + TSC2 MLPA-deletion/duplication screen only
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
