This comprehensive panel consists of 75 genes related to lysosomal storage diseases and conditions with similar clinical phenotypes. Common clinical features for these disorders include:

Microcephaly/Macrocephaly
Hepatomegaly
Short stature
Joint Stiffness
Deafness
Abnormal skeletal survey
Coarse features
Macroglossia
Abnormal MRI
Sleep Apnea
Seizures
Behavioral problems
Ocular Anomalies
Intellectual disability or Developmental Delay
Hypotonia
Spasticity/dystonia
Ataxia/poor coordination

List of Genes and Conditions

This panel may be particularly useful for
        •  patients with a suspected storage disease in whom other enzyme testing and single gene analysis has been normal
        •  patients with a non-specific "storage-like" presentation who do not fit the typical phenotype for a specific disorder

For patients with a specific suspected storage disease, enzyme analysis or individual gene sequencing should be considered first.

The current design of the lysosomal storage disease panel covers the coding region for all 75 genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3' untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations.

We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution testing whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.

The following genes can also be ordered as individual sequencing tests:

AGA
ARSA
ARSB
CLN3
CTSA
FUCA1
GAA
GALC
GALNS
GBA
GLA
GLB1
GNPTAB
GNS
GPC3
GUSB
HEXA
HEXB
HGSNAT
HRAS
IDS
IDUA
MAN2B1
MANBA
KMT2D
NAGLU
NEU1
PPT1
SGSH
SMPD1
TCF4
TPP1

Effective January 1, 2017, all NGS panels are performed on an exome backbone with the potential for reflex to whole exome sequencing at a reduced cost. Please contact the laboratory to discuss the requirements for exome sequencing.

If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.