Neuromuscular Disorders 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 condions 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 abnormalies, organomegaly, and central nervous system dysfuncon. The overall incidence of LSDs is esmated 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 connue to be used reliably to assign paents to the general lysosomal storage disorder category. Biochemical tesng 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 Test Code Test Name Turnaround Time CPT®**Code(s) LS Lysosomal Storage Disease: Panel Enzyme Acvity (12 Enzymes), Leukocytes 7-10 days 82657 (x12), 84155 (x12), 84311 (x12) BLSDS Lysosomal Storage Disorders: Urine Screening 2 weeks (GAGs performed Fri 10 am/Oligos performed Fri 3 pm) 82542 (x1), 82570 (x1), 83864 (x1), 84275 (x1), 84375 (x1), 84377 (x1) GA MPS: GAGs, Quantave and Qualitave, Urine 7-10 days 82570 (x1), 83864 (x1), 84375 (x1)8 OS High Resoluon Oligosaccharide/Glycan Profile, Urine 7-10 days 82542 (x1), 82570 (x1), 84377 (x1) BSAU Free Sialic Acid, Urine 10 days 82570 (x1), 84275 (x1) BM Gaucher Disease: Biomarker Panel (ACE, CHITO, TRAP), Serum 7-10 days 82164 (x1), 82657 (x2) **CPT® is a registered trademark of the American Medical Associaon. and single-analyte tests are available for Gaucher disease, the mucopolysaccharidoses, and sialic acid storage diseases. Genetics 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.
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For more information about EGL Genetics and the nearly 1000 tests we offer: CALL WEB 470.378.2200 eglgenetics.com
Neuromuscular DisordersLysosomal Storage Disorders
Lysosomal Storage DisordersLysosomal 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
Test Code Test Name Turnaround Time CPT®**Code(s)
LS Lysosomal Storage Disease: Panel EnzymeActivity (12 Enzymes), Leukocytes 7-10 days 82657 (x12), 84155 (x12), 84311 (x12)
BLSDS Lysosomal Storage Disorders: Urine Screening 2 weeks (GAGs performed Fri 10 am/Oligos performed Fri 3 pm)
82542 (x1), 82570 (x1), 83864 (x1), 84275 (x1), 84375 (x1), 84377 (x1)
GA MPS: GAGs, Quantitative and Qualitative,Urine 7-10 days 82570 (x1), 83864 (x1), 84375 (x1)8
OS High Resolution Oligosaccharide/GlycanProfile, Urine 7-10 days 82542 (x1), 82570 (x1), 84377 (x1)
BSAU Free Sialic Acid, Urine 10 days 82570 (x1), 84275 (x1)
BM Gaucher Disease: Biomarker Panel (ACE, CHITO, TRAP), Serum 7-10 days 82164 (x1), 82657 (x2)
Lysosomal Storage Disorders
**CPT® is a registered trademark of the American Medical Association.
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.
and single-analyte tests are available for Gaucher disease, the mucopolysaccharidoses, and sialic acid storage diseases.Genetics
Lysosomal Storage DisordersLysosomal storage disorders (LSDs) comprise more than 50 metabolic disorders including defects in degradative and
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)
LS Lysosomal Storage Disease: Panel EnzymeActivity (12 Enzymes), Leukocytes 7-10 days 82657 (x12), 84155 (x12), 84311 (x12)
BLSDS Lysosomal Storage Disorders: Urine Screening 2 weeks (GAGs performed Fri 10 am/Oligos performed Fri 3 pm)
82542 (x1), 82570 (x1), 83864 (x1), 84275 (x1), 84375 (x1), 84377 (x1)
GA MPS: GAGs, Quantitative and Qualitative,Urine 7-10 days 82570 (x1), 83864 (x1), 84375 (x1)8
OS High Resolution Oligosaccharide/GlycanProfile, Urine 7-10 days 82542 (x1), 82570 (x1), 84377 (x1)
BSAU Free Sialic Acid, Urine 10 days 82570 (x1), 84275 (x1)
BM Gaucher Disease: Biomarker Panel (ACE, CHITO, TRAP), Serum 7-10 days 82164 (x1), 82657 (x2)
Lysosomal Storage Disorders
**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.
For more information about EGL Genetics and the nearly 1000 tests we offer: CALL WEB 470.378.2200 eglgenetics.com
Neuromuscular DisordersLysosomal Storage Disorders
Molecular Testing for Lysosomal Storage DisordersThe 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 PSAPAGA CLN6 FUCA1 GM2A HEXA LAMP2 NAGA SGSHARSA CLN8 GAA GNE HEXB LIPA NAGLU SLC17A5ARSB CTNS GALC GNPTAB HGSNAT LTBP2 NEU1 SMPD1
ASAH1 CTSA GALNS GNPTG HYAL1 MAN2B1 NPC1 SUMF1ATP13A2 CTSD GBA GNS IDS MANBA NPC2 TPP1
CLN3 DNAJC5 GLA GRN IDUA MCOLN1 PPT1Some genes on this panel are associated with additional
Genes included on panels are subject to change.
Test Code Test Name Turnaround Time CPT®** Code(s)
MM120 Lysosomal Storage Disorders: Sequencing Panel 12 weeks 81404 (x1), 81405 (x1), 81406 (x1)
MD120 Lysosomal Storage Disorders: Deletion/Duplication Panel 2 weeks 81228 (x1), 81401 (x1)
MM231 Neuronal Ceroid-Lipofuscinoses:Sequencing Panel 12 weeks 81406 (x1)
MD231 Neuronal Ceroid-Lipofuscinoses:Deletion/Duplication Panel 2 weeks 81228 (x1)
**CPT® is a registered trademark of the American Medical Association.
Why Choose EGL Genetics?
• EGL Genetics 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.
Lysosomal Storage Disorders
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.
EMAIL CALL [email protected] 404-778-8499 www.geneticslab.emory.edu
Molecular Testing for Lysosomal Storage DisordersThe 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 PSAPAGA CLN6 FUCA1 GM2A HEXA LAMP2 NAGA SGSHARSA CLN8 GAA GNE HEXB LIPA NAGLU SLC17A5ARSB CTNS GALC GNPTAB HGSNAT LTBP2 NEU1 SMPD1
ASAH1 CTSA GALNS GNPTG HYAL1 MAN2B1 NPC1 SUMF1ATP13A2 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 NameCPT®** Code(s)
MM120 Lysosomal Storage Disorders: Sequencing Panel 12 weeks 81404 (x1), 81405 (x1), 81406 (x1)
MD120 Lysosomal Storage Disorders: Deletion/Duplication Panel 2 weeks 81228 (x1), 81401 (x1)
MM231 Neuronal Ceroid-Lipofuscinoses:Sequencing Panel 12 weeks 81406 (x1)
MD231 Neuronal Ceroid-Lipofuscinoses:Deletion/Duplication Panel 2 weeks 81228 (x1)
**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
• 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.
Lysosomal Storage Disorders
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.
Molecular Testing for Lysosomal Storage DisordersThe 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 PSAPAGA CLN6 FUCA1 GM2A HEXA LAMP2 NAGA SGSHARSA CLN8 GAA GNE HEXB LIPA NAGLU SLC17A5ARSB CTNS GALC GNPTAB HGSNAT LTBP2 NEU1 SMPD1
ASAH1 CTSA GALNS GNPTG HYAL1 MAN2B1 NPC1 SUMF1ATP13A2 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
Test Code Test Name Turnaround Time CPT®** Code(s)
MM120 Lysosomal Storage Disorders: Sequencing Panel 12 weeks 81404 (x1), 81405 (x1), 81406 (x1)
MD120 Lysosomal Storage Disorders: Deletion/Duplication Panel 2 weeks 81228 (x1), 81401 (x1)
MM231 Neuronal Ceroid-Lipofuscinoses:Sequencing Panel 12 weeks 81406 (x1)
MD231 Neuronal Ceroid-Lipofuscinoses:Deletion/Duplication Panel 2 weeks 81228 (x1)
**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 forthese 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.
Lysosomal Storage Disorders
About EGL GeneticsEGL Genetics specializes in genetic testing, with more than nearly 50 years of clinical experience and board-certified laboratory directors and genetic counselors reporting out cases. EGL Genetics offers a combined 1000 molecular genetics,biochemical genetics, and cytogenetic tests under one roof and custom testing for all medically relevant genes, for domestic and international clients.
[email protected] 404-778-8499 www.geneticslab.emory.edu
For more information about EGL and the nearly 1100 tests we offer: EMAIL
www.geneticslab.emory.eduCALL
404-778-8499
phenotypes. All genes on the next generation sequencing panel may be ordered separately.
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