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HelpTest Code LAB1872 LIPA Sequencing
Clinical System Name
Wolman Disease (LIPA) Sequencing
Synonyms
CESD Sequencing
Cholesterol Ester Storage Disease Sequencing
Lysosomal Acid Lipase Sequencing
Description
Lysosomal Acid Lipase (LAL) deficiency is an autosomal recessive lysosomal storage disease caused by deficiency of LAL, an enzyme responsible for lipid breakdown. The disease can present in infancy as Wolman disease, or in childhood or adulthood as cholesteryl ester storage disease (CESD).
See Acid Lipase Level for primary diagnostic testing, which may be followed by LIPA gene sequencing if indicated.
Also available: Targeted Gene Variant Sequencing (LAB1915) - For targeted analysis of variants previously identified through clinical testing of a family member or research testing of the individual. Please review requirements and restrictions for testing.
Sample Requirements
Note: For patients who have had a whole blood transfusion, wait 10 days post transfusion to draw for genetic testing. No wait time is necessary for blood or saliva collection if the patient received leuko-reduced red cells or plasma.
Specimen: Whole blood, cord blood
Container(s): Lavender/EDTA, Yellow/ACD A or B
Preferred Vol: 3 mL
Minimum Vol: 1 mL
Note: Heparin samples (Green tops) are unacceptable.
Specimen: Extracted DNA from EDTA blood
Minimum: 10µg
Note: Isolation of nucleic acids for clinical testing must be performed in a CLIA-certified
laboratory or a laboratory meeting equivalent requirements as determined by the CAP
and/or the CMS. DNA concentration minimum 50 µg/mL; 260/280 ratio 1.70-2.00.
Specimen: Cultured cells
Acceptable: Fibroblasts
Container(s): T-25 flasks
Preferred Vol: 2 flasks
Specimen: Saliva collected using Oragene Dx OGD-575/675 collection kit.
Container: Oragene Dx OGD-575/675 collection kit
IMPORTANT NOTE: Manufacturer instructions must be followed. The Oragene Dx OGD575/675 kit is not for children under 6 months. Contact Lab Client Services for more information or to obtain a kit 206-987-2617, labclientservices@seattlechildrens.org
Processing Instructions
Reject due to: Heparin
Spin: No
Aliquot: No
Temp: Refrigerate
Storage location: Molecular Genetics box in CPA refrigerator #2
Off-site collection: Refrigerate blood samples until ready to ship. Transport all sample types at room temperature via overnight shipping.
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| Cultured cells | Room temp | 3 days |
| Whole blood, extracted DNA | Room temp | 3-5 days |
| Whole blood, extracted DNA | Refrigerated | 7 days |
| Extracted DNA | Frozen | ok |
| Saliva, ORAgene Dx OGD-575/675 | Room Temp | 2 weeks |
Note: Whole blood samples > 7days may be submitted to be assessed by our lab for acceptability for testing.
Availability
| STAT | Performed | TAT |
|---|---|---|
| Contact lab | Monday - Friday | 2-3 weeks |
Performing Laboratory
Seattle Children's Laboratory
Department
Department: Molecular Genetics Laboratory
Phone: 206-987-3872
Lab Client Services: 206-987-2617
Lab Genetic Counselor: LabGC@seattlechildrens.org
Methodology
Method: Bi-directional sequencing of all exons and exon-intron boundaries
Limitations: Mutations in the promoter region, large deletions, large duplications, or rare recombinant mutations may not be detected by this method.
Reference Range
Interpretive report will be provided
Requisition
Special Instructions
Clinical Utility
Lysosomal Acid Lipase (LAL) deficiency is an autosomal recessive lysosomal storage disease caused by deficiency of LAL, an enzyme responsible for lipid breakdown. The disease can present in infancy as Wolman disease, or in childhood or adulthood as cholesteryl ester storage disease (CESD). Wolman disease is a severe phenotype associated with a clinical spectrum that can include growth failure, malabsorption, steatorrhea, hepatosplenomegaly, failure to thrive and ultimately hepatic failure. Later onset disease may present with hyperlipidemia, liver dysfunction, hepatosplenomegaly, liver fibrosis, and cirrhosis. LAL deficiency may present with findings similar to non-alcoholic fatty liver disease (NAFLD), non-alcoholic steatohepatitis (NASH), and alcoholic liver disease. Dyslipidemia (high cholesterol, triglycerides, and/or low HDL) may also be a presenting feature.