EMORY GENETICS LABORATORY

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