EMORY GENETICS LABORATORY

EMORY GENETICS LABORATORY
Your Partner in Genetic Healthcare
Lysosomal Storage Disorders

Emory Genetics Laboratory (EGL) is a worldwide
leader with more than 35 years of experience
in comprehensive genetic diagnostic testing.
Our innovation and expertise in studying rare genetic
conditions foster our dedication to provide the medical
community with state-of-the-art tests, informative test
reports and quality customer service.
Our laboratory directors, genetic counselors and medical geneticists, recognized as leaders in
their areas of interest, are available to discuss key issues related to diagnosis, interpretation
and medical management for the conditions in our growing test menu. By integrating cuttingedge
genetic testing technologies with clinical expertise, EGLprovides the quality laboratory
services needed to enhance the clinical care you provide to your patients.
Lysosomal Storage Disorders (LSDs)
Lysosomal storage disorders are genetic conditions most often caused by a lack of an enzyme
that eliminates unwanted substances in cells. Lysosomes are small sac-like structures that act
as the “recycling center” of each cell, breaking down unwanted material into simple products
for the cell to use to build new material. The lack of certain enzymes causes a buildup of the
substance that the enzyme would normally eliminate, and deposits accumulate in many cells
of the body. Abnormal storage causes inefficient functioning of and damage to cells, which can
lead to serious health problems. Currently, there are more than 40 known lysosomal storage
disorders.
There is great variability in the clinical features of these disorders. Depending on the condition,
symptoms can begin anytime from before birth until late in adulthood. Some patients
with lysosomal storage disorders present in childhood with developmental delay or regression
of learned skills, while others present with evidence of liver and/or spleen enlargement, bone
or eye abnormalities, skin lesions, or facial coarsening, with/without a neurological component.
In other disorders, adolescent and adult patients will present with weakness, psychosis,
and mental deterioration. Most lysosomal storage disorders are autosomal recessively inherited;
however, a few are X-linked, such as Fabry Disease and Hunter Syndrome (MPS II).
Why use EGL for your LSD Testing Needs?
• Over 35 years of experience of LSD testing
• EGL works with expert consultants from Emory’s Lysosomal Storage Disease Center
• Notification and discussion of the significance of abnormal results by genetic counselors
and laboratory directors who specialize in biochemical and molecular genetics
• Laboratory Director/Supervisor on-call 24/7 for clinical questions or STAT requests

Comprehensive Analysis
EGL has over 35 years of experience providing comprehensive clinical testing services for
lysosomal storage disorders. Testing options include:
Disease Biochem Sequenc- Del/Dup Genes
Alpha Fucosidosis a FUCA
Alpha-Mannosidosis a a a MAN2B1
Beta-Mannosidosis a a a MANBA
Fabry Disease a a a GLA
GM-1 Gangliosidosis a a a GLB1
Gaucher Disease * a a GNA
Hunter Syndrome (MPS II) a a IDS
Hurler Syndrome (MPS I) a a a IDUA
Krabbe Disease a a GALC
Maroteaux-Lamy Syndrome (MPS VI) a a a ARSB
Metachromatic Leukodystrophy a a a ARSA
Morquio Syndrome A (MPS IVA) a a GALNS
Morquio Syndrome B (MPS IVB) a a a GLB1
Mucolipidosis (Type II/IIIA) a a a GNPTAB
Niemann-Pick Disease (Type A & B) a a SMPD1
Niemann-Pick Disease (Type C) a a NPC1 & NPC2
Pompe Disease a a a GAA
Sandhoff Disease a a HEXB
Sanfilippo Syndrome (MPS III) a a SGSH, NAGLU, HGSNAT & GNS
Sly Syndrome (MPS VII) a a a GUSB
Tay-Sachs Disease a a a HEXA
LSD Test Pathway
if negative
Consider
another
disorder
Urinary LSD Screening
High Resolution Oligosaccharides + GAGs
LSD Enzyme Screening Panel
12 Enzyme Panel
if negative
Suspected LSD
if positive
Individual
Enzyme Assay
Direct Enzyme
Deficiency
Full Gene Sequencing
Deletion/Duplication
if negative or only 1 mutation
if positive
* Common mutation panel available
Glycolipids
(GB3)
• Cofactor
• Coactivator
• Transporter
• Other Lysosomal Protien
if positive
DiagnosIs Confirmed

Ordering Recommendations and Procedures
• Collect specimens for Biochemical testing (see website for specific specimen requirements)
o Biochemical: Whole Blood (Sodium Heparin) or Urine
• Order only the Biochemical test(s) needed using any of our ordering methods (Custom
Requisition, Online Ordering, or Manual Requisitions).
• The biochemical report will include recommendations for additional molecular testing
analysis.
• Collect specimens for Molecular testing and submit a new requisition requesting the
recommended molecular testing.
o Molecular: Whole Blood (EDTA tube)
Verification of Benefits
All insurance companies have different levels of coverage, but most cover at least part of
the cost of genetic testing if testing is indicated.
As a complimentary service, Emory Genetics Laboratory’s experienced team will work
with your patient’s insurance company to determine their level of coverage and the approximate
out-of-pocket costs, so you and your patient can make an educated decision
on how to proceed.
How do you order EGL’s Lysosomal Storage Disorder tests?
Our goal at Emory Genetics Laboratory is to make the test ordering process as simple as
possible for our clients. To do this, we offer three distinct ways to order tests:
• Specialized Lysosomal Storage Disorders Requisition Form
• Custom Requisition Forms
• Online Test Ordering
Please contact our Client Service representatives for more information at
(855) 831-7447, or visit our website at http://geneticslab.emory.edu.
Emory Genetics Laboratory
2165 North Decatur Road
Atlanta, Georgia 30033
Phone: 404-778-8499
Toll Free: 855-831-7447
Fax: 404-778-8559
http://geneticslab.emory.edu