Lysosomal Storage Disorders

Lysosomal Storage Disorders

Lysosomal storage disorders (LSDs) comprise more than 50 metabolic disorders including defects in degradative and
synthetic enzymes, lysosomal membrane defects, the neuronal ceroid lipofuscinoses (NCLs), and disorders of
lysosome biogenesis and endosome–lysosome traffic. LSDs are mostly autosomal recessive disorders, with the
exception of mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, and Danon and Fabry diseases,
which exhibit X-linked inheritance.
Common clinical features of LSDs vary significantly from conditions like Fabry and Gaucher disease type I with more
subtle symptoms like angiokeratomas or mild organomegaly to those more obvious on a physical exam, including coarse
hair and facies, bone abnormalities, organomegaly, and central nervous system dysfunction. The overall incidence of
LSDs is estimated to be 1 in 5,000 births.

Although each LSD results from pathogenic variants in a different gene leading to a deficiency of enzyme activity or
protein function, LSDs share one common biochemical characteristic: an accumulation of substrates within lysosomes.
The particular substrates stored and the site(s) of storage vary. The substrate type is used to group LSDs into the
broad categories of the MPSs, the lipidoses, the glycogenoses, the oligosaccharidoses, and the NCLs. Despite this
categorization, many clinical similarities are observed between groups.

Biochemical Testing for Lysosomal Storage Disorders

Clinical and biochemical features continue to be used reliably to assign patients to the general lysosomal storage disorder
category. Biochemical testing is primarily used for screening and monitoring disease progression for these disorders. EGL
offers biochemical screening panels for 12 LSDs and 12 glycoprotein storage disorders. Separate screening panels and
single-analyte tests are available for Gaucher disease, the mucopolysaccharidoses, and sialic acid storage diseases.

Test Code Test Name Turnaround Time CPT®**Code(s)

Lysosomal Storage Disease: Panel Enzyme
LS 7-10 days 82657 (x12), 84155 (x12), 84311 (x12)
Activity (12 Enzymes), Leukocytes
2 weeks (GAGs performed Fri 10 am/Oligos 82542 (x1), 82570 (x1), 83864 (x1),
BLSDS Lysosomal Storage Disorders: Urine Screening
performed Fri 3 pm) 84275 (x1), 84375 (x1), 84377 (x1)
MPS: GAGs, Quantitative and Qualitative, 82570 (x1), 83864 (x1), 84375 (x1)8
GA 7-10 days
Urine
High Resolution Oligosaccharide/Glycan 82542 (x1), 82570 (x1), 84377 (x1)
OS 7-10 days
Profile, Urine

BSAU Free Sialic Acid, Urine 10 days 82570 (x1), 84275 (x1)

Gaucher Disease: Biomarker Panel (ACE, 82164 (x1), 82657 (x2)

BM 7-10 days
CHITO, TRAP), Serum
**CPT® is a registered trademark of the American Medical Association.
*Each analyte may be ordered separately.

References:
1. Boustany RM. Nat Rev Neurol. 2013 Oct;9(10):583-98.
2. Fuller M, et al. Epidemiology of lysosomal storage diseases: an overview. In Mehta A, Beck M, Sunder-Plassmaan G, eds. Fabry
Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006: Chapter 2.
3. Huizing M., Helip-Wooley A., Westbroek W., et al. Annu. Rev. Genomics Hum. Genet. 2008 (9): 359–386.
4. OMIM.
Lysosomal Storage Disorders
Molecular Testing for Lysosomal Storage Disorders
The identification of the precise genetic defect is important for carrier testing and early prenatal diagnosis. Molecular
analysis is likely to expand the clinical spectrum of LSDs and may also provide data relevant to prognosis and future
therapeutic intervention. The Lysosomal Storage Disorder Panel is indicated for individuals with abnormal biochemical
results suggestive of an LSD, clinical features associated with LSDs, and/or suspicion of an neuronal ceroid-lipofuscinoses
(NCL).

Genes Included on Lysosomal Storage Disorders Panel*

ADAMTS10 CLN5 FBN1 GLB1 GUSB KCTD7 MFSD8 PSAP

AGA CLN6 FUCA1 GM2A HEXA LAMP2 NAGA SGSH
ARSA CLN8 GAA GNE HEXB LIPA NAGLU SLC17A5
ARSB CTNS GALC GNPTAB HGSNAT LTBP2 NEU1 SMPD1
ASAH1 CTSA GALNS GNPTG HYAL1 MAN2B1 NPC1 SUMF1
ATP13A2 CTSD GBA GNS IDS MANBA NPC2 TPP1
CLN3 DNAJC5 GLA GRN IDUA MCOLN1 PPT1
*Please note that deletion/duplication analysis is available for all genes, with the exception of GBA. Some genes on this panel are associated with additional
phenotypes. All genes on the next generation sequencing panel may be ordered separately. Genes included on panels are subject to change.

Test Code Test Name Turnaround Time CPT®** Code(s)

Lysosomal Storage Disorders:
MM120 12 weeks 81404 (x1), 81405 (x1), 81406 (x1)
Sequencing Panel
Lysosomal Storage Disorders:
MD120 2 weeks 81228 (x1), 81401 (x1)
Deletion/Duplication Panel
Neuronal Ceroid-Lipofuscinoses:
MM231 12 weeks 81406 (x1)
Sequencing Panel
Neuronal Ceroid-Lipofuscinoses:
MD231 2 weeks 81228 (x1)
Deletion/Duplication Panel
**CPT® is a registered trademark of the American Medical Association.

Why Choose EGL?

• EGL is a center of excellence for LSDs, offering the most comprehensive biochemical and molecular genetic testing for
these disorders.
• Free parental testing for up to two variants identified on the (molecular) next generation sequencing panel.
• Guaranteed 100% coverage with Sanger sequencing fill-in for low coverage regions.

About Emory Genetics Laboratory (EGL)

EGL specializes in genetic testing, with more than 45 years of clinical experience and board-certified laboratory
directors and genetic counselors reporting out cases. EGL offers a combined 1100 molecular genetics, biochemical
genetics, and cytogenetic tests under one roof and custom testing for all medically relevant genes, for domestic and
international clients.

For more information about EGL and the nearly 1100 tests we offer:
EMAIL CALL WEB
egl.marketing@emory.edu 404-778-8499 www.geneticslab.emory.edu