The Neurogenetics Diagnostic Laboratory (NDL)
CLIA #33D0903404
NYS PFI #5419-70937370
400 East 34th Street, RR 220
New York, NY 10016
tel: 212-263-7635 or 253-0577
fax: 212-263-1018
e-mail: neurogenetics@med.nyu.edu
| Staff | Phone |
| Edwin
H. Kolodny, M.D., Director |
212-263-6347 |
| Gregory
M. Pastores, M.D., Associate Director |
212-263-8344 |
| Stanley
Samuels, Ph.D., Assistant Director |
212-263-7637 |
| Srinivasa
Raghavan, Ph.D., Assistant Director |
212-263-6628 |
| Pamela
Lenz, M.S., Genetic Counselor |
212-263-0577 |
| Gustavo,
Charria, MD Neurogeneticist |
212-263-8344 |
| Baijin Zeng, M.D., Technologist |
|
| Elton Ong, M.D. Technologist |
Diagnostic Services:
A. Diseases Diagnosed By Enzymatic Analysis
- Canavan Disease
- Fabry Disease
- Fucosidosis
- GM1 Gangliosidosis
- Gaucher Disease
- Hurler/Scheie
- Mucolipidosis II & III
- Krabbe Disease
- a-Mannosidosis
- b-Mannosidosis
- Maroteaux-Lamy
- Merachromatic Leukodystrophy
- Morquio B
- Niemann-Pick (A, B)
- Pompe Disease
- Salla Disease
- Sanfilippo B, C
- Sialidosis
- Sly Syndrome
- Tay-Sachs Disease
- Wolman Disease
B1. Diseases Diagnosed By Mutation Analysis
- Canavan disease
- Gaucher disease
- Tay-Sachs disease
- Facioscapulohumeral muscular dystrophy
- Friedreich ataxia
- Myotonic dystrophy
- Niemann-Pick disease A/B
- Spinal muscular atrophy I
- Torsion dystonia I
B2. Mutation Analysis
(Approval Pending - Available On A Research Basis Only)
- Batten disease
- Dentatorubal-pallidoluysian atrophy
- Kearns-Sayre Syndrome
- Leber's heriditary optic neuropathy
- Machado-Joseph disease
- MELAS Syndrome
- MERRF
- Neuropathy, ataxia and retinitis pigmentosa
- Spinocerebellar ataxia 1
- Spinocerebellar ataxia 2
- Spinocerebellar ataxia 7
