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Metabolic Storage Disorders Panel Sequencing, 51 Genes
2008831
Ordering Recommendation

May be used to confirm a diagnosis of metabolic storage disorder in individuals with suggestive clinical and biochemical findings. Not a first-line test for Pompe disease.

Mnemonic
STORAGESEQ
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
10-12 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA) or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
Submit the Patient History Form for Metabolic Storage Disorders with the Electronic Packing List. 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Refer to report.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
CPT Code(s)
81250  (G6PC); 81251  (GBA); 81290  (MCOLN1); 81330  (SMPD1); 81404  (NPC2); 81405 x3  (ARSA, GLA, IDS); 81406 x6  (GAA, GALC, IDUA, NPC1, PYGM, SLC37A4); 81407  (AGL); 81479
Components
Component Test Code*Component Chart NameLOINC
2008832Metabolic Storage Disorders Seq Specimen31208-2
2008833Metabolic Storage Disorders Seq Interp35474-6
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • AGA, AGL, ARSA, ARSB, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, DNAJC5, ENO3, G6PC, GAA, GALC, GALNS, GBA
  • Fabry disease
  • Gaucher disease
  • GBE1, GLA, GLB1, GM2A, GNPTAB, GNS, GUSB, GYS1, GYS2, HGSNAT, HYAL1, IDS, IDUA, LDHA, LIPA, MAN2B1
  • Glycogen storage disease
  • Hunter syndrome
  • Hurler syndrome
  • Krabbe disease
  • Lipidosis
  • Lysosomal storage disease
  • MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PFKM, PPT1, PYGL, PYGM, SGSH, SLC17A5, SLC37A4
  • McArdle disease
  • Metachromatic leukodystrophy
  • Mucopolysaccharidosis (MPS)
  • Neuronal ceroid lipofuscinosis
  • Niemann-Pick disease
  • Oligosaccharidosis
  • Pompe disease
  • Sanfilippo A
  • SMPD1, SUMF1, TPP1