Lysosomal Disorders and Mucopolysaccharidosis Panel

SEQmethod-seq-icon Our Sequence Analysis is based on a proprietary targeted sequencing method OS-Seq™ and offers panels targeted for genes associated with certain phenotypes. A standard way to analyze NGS data for finding the genetic cause for Mendelian disorders. Results in 21 days. DEL/DUPmethod-dup-icon Targeted Del/Dup (CNV) analysis is used to detect bigger disease causing deletions or duplications from the disease-associated genes. Results in 21 days. PLUSmethod-plus-icon Plus Analysis combines Sequence + Del/Dup (CNV) Analysis providing increased diagnostic yield in certain clinical conditions, where the underlying genetic defect may be detectable by either of the analysis methods. Results in 21 days.

Test code: ME1501

The Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel is a 99 gene test for genetic diagnostics of patients with clinical suspicion of glycoprotein storage disorders, lipid storage disorders, lysosomal storage diseases (LSDs), mucolipidoses or mucopolysaccharidoses.

Lysosomal storage diseases (LSDs) comprise about 50 unique monogenic autosomal or X-linked diseases. This panel provides effective differential diagnosis and is also part of Comprehensive Metabolism Panel.

About Lysosomal Disorders and Mucopolysaccharidosis

About fifty different lysosomal storage diseases (LSDs) have been identified, including different types of disorders caused by genetic mutations that result in deficiency or reduced activity of native intracellular enzymes that catabolize biological macromolecules. Usually lysosomal storage disorders are caused by lysosomal dysfunction as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins or mucopolysaccharides. These enzyme defects result in accumulation of specific macromolecular compounds within lysosomes in various tissues and organs, causing progressive damage that can become life-threatening in some diseases. Although each LSD is individually rare, as a group they have an incidence of about 1/7,000-8,000 live births, varying between different populations. LSDs may be variably expressed as infantile, juvenile, or adult forms. In adult-onset diseases, the pathogenesis is usually slower than in the infantile or juvenile forms, and may include peripheral and CNS symptoms, whereas infantile and juvenile forms often involve progressive central nervous system involvement in addition to peripheral symptoms. In ultimate expression, LSDs show substantial heterogeneity in disease manifestation. Symptomatic pathology may be a function of mutation type and residual enzyme levels and specific mutations or types of mutations may be connected to discrete disease effects even if genotype-phenotype correlations are not strong. Most of LSDs are autosomal recessively inherited such as Niemann-Pick disease, type C, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS2). Other examples of LSDs covered by this panel are Gaucher's disease (the most common LSD), Tay-Sachs disease, Type II Pompe Disease, Salla disease, Krabbe disease and Hurler disease. Enzyme-replacement therapy (ERT) is now commercially available for six LSDs, typically used lifelong with traditional management practices for each.


Results in 3-4 weeks. We do not offer a maternal cell contamination (MCC) test at the moment. We offer prenatal testing only for cases where the maternal cell contamination studies (MCC) are done by a local genetic laboratory. Read more.

Genes in the Lysosomal Disorders and Mucopolysaccharidosis Panel and their clinical significance
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCC8Hyperinsulinemic hypoglycemia, Diabetes, permanent neonatal, Hypoglycemia, leucine-induced, Diabetes mellitus, transient neonatalAD/AR78601
ACY1Aminoacylase 1 deficiencyAR513
ADAMTSL2Geleophysic dysplasiaAR726
ADSLAdenylosuccinase deficiencyAR2253
ALDH5A1Succinic semialdehyde dehydrogenase deficiencyAR867
ALDH7A1Epilepsy, pyridoxine-dependentAR29110
AMTGlycine encephalopathyAR2651
ANTXR2Hyalinosis, infantile systemic, Fibromatosis, juveline hyalineAR1340
ARSAMetachromatic leukodystrophyAR61212
ARSBMucopolysaccharidosis (Maroteaux-Lamy)AR18192
ASAH1Spinal muscular atrophy with progressive myoclonic epilepsy, Farber lipogranulomatosisAR1153
ASPAAspartoacylase deficiency (Canavan disease)AR1990
ATP13A2Parkinson disease (Kufor-Rakeb syndrome)AR1135
BTDBiotinidase deficiencyAR165231
CLN3Ceroid lipofuscinosis, neuronalAR6964
CLN5Ceroid lipofuscinosis, neuronalAR4042
CLN6Ceroid lipofuscinosis, neuronalAR2180
CLN8Ceroid lipofuscinosis, neuronalAR3135
COL2A1Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1AD106537
COL11A2Weissenbacher-Zweymuller syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome type 3 (non-ocular)AD/AR1751
CTSCPeriodontitis, juvenile, Haim-Munk syndrome, Papillon-Lefevre syndromeAR1591
CTSDCeroid lipofuscinosis, neuronalAR1115
DHCR7Smith-Lemli-Opitz syndromeAR42194
DPYD5-fluorouracil toxicityAD/AR1096
DYMDyggve-Melchior-Clausen dysplasia, Smith-McCort dysplasiaAR2028
ETFAGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR728
ETFBGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR713
ETFDHGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR36168
FHHereditary leiomyomatosis and renal cell cancerAD89161
FOLR1Cerebral folate deficiencyAR424
GAAGlycogen storage diseaseAR79503
GALCKrabbe diseaseAR35210
GALNSMucopolysaccharidosis (Morquio syndrome)AR38328
GAMTGuanidinoacetate methyltransferase deficiencyAR1253
GBA*Gaucher diseaseAR73446
GCDHGlutaric aciduriaAR36198
GLAFabry diseaseXL191885
GLB1GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome)AR53211
GLDCGlycine encephalopathyAR89214
GNEInclusion body myopathy, Nonaka myopathy, SialuriaAD/AR32193
GNSMucopolysaccharidosis (Sanfilippo syndrome)AR625
GPC3Simpson-Golabi-Behmel syndromeXL2265
HEXATay-Sachs disease, GM2-gangliosidosis, Hexosaminidase A deficiencyAR69182
HEXBSandhoff diseaseAR26107
HGSNATMucopolysaccharidosis (Sanfilippo syndrome), Retinitis pigmentosaAR1766
HPDHawksinuria, TyrosinemiaAD/AR49
HRASCostello syndrome, Congenital myopathy with excess of muscle spindlesAD3026
L2HGDHL-2-hydroxyglutaric aciduriaAR875
LAMA2Muscular dystrophy, congenital merosin-deficient, SchizophreniaAD/AR72225
LDB3Dilated cardiomyopathy (DCM), Myopathy, myofibrillarAD1011
LIPAWolman disease, Cholesterol ester storage diseaseAR1159
MAN1B1Mental retardationAR521
MANBAMannosidosis, lysosomalAR918
MFSD8Ceroid lipofuscinosis, neuronalAR1941
MOCS1Molybdenum cofactor deficiencyAR732
MOCS2Molybdenum cofactor deficiencyAR812
MYOTMyopathy, myofibrillarAD813
NAGLUMucopolysaccharidosis (Sanfilippo syndrome)AR25156
NPC1Niemann-Pick diseaseAR73441
NPC2Niemann-pick diseaseAR1627
PEX1Heimler syndromeAR34121
PEX3Zellweger syndrome, Peroxisome biogenesis disorderAR27
PEX5Adrenoleukodystrophy, neonatal, Rhizomelic chondrodysplasia punctata, Zellweger syndrome, Peroxisome biogenesis disorderAR414
PEX6Heimler syndromeAR24102
PEX10Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorder, AtaxiaAR1729
PEX12Zellweger syndrome, Peroxisome biogenesis disorderAR1534
PEX13Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorderAR410
PEX16Zellweger syndrome, Peroxisome biogenesis disorderAR611
PEX26Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorderAR1023
PGK1Phosphoglycerate kinase 1 deficiencyXL1426
PHYHRefsum diseaseAR936
PPT1Ceroid lipofuscinosis, neuronalAR7277
PSAPKrabbe disease, atypical, Metachromatic leukodystrophy due to saposin-b deficiency, Combined saposin deficiency, Gaucher disease, atypical, due to saposin C deficiencyAR1524
QDPRHyperphenylalaninemia, BH4-deficientAR855
RAI1Smith-Magenis syndromeAD19104
SGSHMucopolysaccharidosis (Sanfilippo syndrome)AR19143
SLC17A5Sialuria, Finnish (Salla disease), Infantile sialic acid storage disorderAR2233
SLC25A15*Hyperornithinemia-hyperammonemia-homocitrullinemia syndromeAR1835
SLC46A1Folate malabsorptionAR1719
SMPD1Niemann-Pick diseaseAR52230
SUMF1Multiple sulfatase deficiencyAR1851
TCF4Corneal dystrophy, Fuchs endothelial, Pitt-Hopkins syndromeAD51129
TPP1Ceroid lipofuscinosis, neuronal, Spinocerebellar ataxiaAR33109
  • * Some regions of the gene are duplicated in the genome leading to limited sensitivity within the regions. Thus, low-quality variants are filtered out from the duplicated regions and only high-quality variants confirmed by other methods are reported out. Read more.

Gene, refers to HGNC approved gene symbol; Inheritance to inheritance patterns such as autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL); ClinVar, refers to a number of variants in the gene classified as pathogenic or likely pathogenic in ClinVar (; HGMD, refers to a number of variants with possible disease association in the gene listed in Human Gene Mutation Database (HGMD, The list of associated (gene specific) phenotypes are generated from CDG ( or Orphanet ( databases.

Blueprint Genetics offers a comprehensive Lysosomal Disorders and Mucopolysaccharidosis Panel that covers classical genes associated with glycoprotein storage disorders, lipid storage disorders, lysosomal storage diseases (LSDs), mucolipidoses and mucopolysaccharidoses. The genes are carefully selected based on the existing scientific evidence, our experience and most current mutation databases. Candidate genes are excluded from this first-line diagnostic test. The test does not recognise balanced translocations or complex inversions, and it may not detect low-level mosaicism. The test should not be used for analysis of sequence repeats or for diagnosis of disorders caused by mutations in the mitochondrial DNA.

Analytical validation is a continuous process at Blueprint Genetics. Our mission is to improve the quality of the sequencing process and each modification is followed by our standardized validation process. Average sensitivity and specificity in Blueprint NGS Panels is 99.3% and 99.9% for detecting SNPs. Sensitivity to for indels vary depending on the size of the alteration: 1-10bps (96.0%), 11-20 bps (88.4%) and 21-30 bps (66.7%). The longest detected indel was 46 bps by sequence analysis. Detection limit for Del/Dup (CNV) analysis varies through the genome depending on exon size, sequencing coverage and sequence content. The sensitivity is 71.5% for single exon deletions and duplications and 99% for three exons’ deletions and duplications. We have validated the assays for different starting materials including EDTA-blood, isolated DNA (no FFPE) and saliva that all provide high-quality results. The diagnostic yield varies substantially depending on the used assay, referring healthcare professional, hospital and country. Blueprint Genetics’ Plus Analysis (Seq+Del/Dup) maximizes the chance to find molecular genetic diagnosis for your patient although Sequence Analysis or Del/Dup Analysis may be cost-effective first line test if your patient’s phenotype is suggestive for a specific mutation profile.

The sequencing data generated in our laboratory is analyzed with our proprietary data analysis and annotation pipeline, integrating state-of-the art algorithms and industry-standard software solutions. Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. The highest relevance in the reported variants is achieved through elimination of false positive findings based on variability data for thousands of publicly available human reference sequences and validation against our in-house curated mutation database as well as the most current and relevant human mutation databases. Reference databases currently used are the 1000 Genomes Project (, the NHLBI GO Exome Sequencing Project (ESP;, the Exome Aggregation Consortium (ExAC;, ClinVar database of genotype-phenotype associations ( and the Human Gene Mutation Database ( The consequence of variants in coding and splice regions are estimated using the following in silico variant prediction tools: SIFT (, Polyphen (, and Mutation Taster (

Through our online ordering and statement reporting system, Nucleus, the customer can access specific details of the analysis of the patient. This includes coverage and quality specifications and other relevant information on the analysis. This represents our mission to build fully transparent diagnostics where the customer gains easy access to crucial details of the analysis process.

In addition to our cutting-edge patented sequencing technology and proprietary bioinformatics pipeline, we also provide the customers with the best-informed clinical report on the market. Clinical interpretation requires fundamental clinical and genetic understanding. At Blueprint Genetics our geneticists and clinicians, who together evaluate the results from the sequence analysis pipeline in the context of phenotype information provided in the requisition form, prepare the clinical statement. Our goal is to provide clinically meaningful statements that are understandable for all medical professionals, even without training in genetics.

Variants reported in the statement are always classified using the Blueprint Genetics Variant Classification Scheme modified from the ACMG guidelines (Richards et al. 2015), which has been developed by evaluating existing literature, databases and with thousands of clinical cases analyzed in our laboratory. Variant classification forms the corner stone of clinical interpretation and following patient management decisions. Our statement also includes allele frequencies in reference populations and in silico predictions. We also provide PubMed IDs to the articles or submission numbers to public databases that have been used in the interpretation of the detected variants. In our conclusion, we summarize all the existing information and provide our rationale for the classification of the variant.

A final component of the analysis is the Sanger confirmation of the variants classified as likely pathogenic or pathogenic. This does not only bring confidence to the results obtained by our NGS solution but establishes the mutation specific test for family members. Sanger sequencing is also used occasionally with other variants reported in the statement. In the case of variant of uncertain significance (VUS) we do not recommend risk stratification based on the genetic finding. Furthermore, in the case VUS we do not recommend use of genetic information in patient management or genetic counseling. For some cases Blueprint Genetics offers a special free of charge service to investigate the role of identified VUS.

We constantly follow genetic literature adapting new relevant information and findings to our diagnostics. Relevant novel discoveries can be rapidly translated and adopted into our diagnostics without delay. These processes ensure that our diagnostic panels and clinical statements remain the most up-to-date on the market.

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ICD & CPT codes

CPT codes


ICD codes

Commonly used ICD-10 codes when ordering the Lysosomal Disorders and Mucopolysaccharidosis Panel

E75Lipid storage disorders
E77Glycoprotein storage disorders

Accepted sample types

  • EDTA blood, min. 1 ml
  • Purified DNA, min. 5μg
  • Saliva (Oragene DNA OG-500 kit)

Label the sample tube with your patient’s name, date of birth and the date of sample collection.

Note that we do not accept DNA samples isolated from formalin-fixed paraffin-embedded (FFPE) tissue.

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