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Test Code LIPA SEQ LIPA Sequencing

Clinical System Name

LIPA Sequencing


CESD Sequencing

Cholesterol Ester Storage Disease Sequencing

Lysosomal Acid Lipase Sequencing

Wolman Disease Sequencing


Sequencing of the LIPA gene

Sample Requirements

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

Minimum: 10µg

Note: 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

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.


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


Note: Whole blood samples > 7days may be submitted to be assessed by our lab for acceptability for testing.


STAT Performed TAT
Contact lab Monday - Friday 2-3 weeks


Performing Laboratory

Seattle Children's Laboratory


Department:  Molecular Genetics Laboratory

Phone: 206-987-3872


Lab Client Services: 206-987-2617


Lab Genetic Counselor:

Reference Range

Interpretive report will be provided


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.

CPT Codes

81479x1     (updated 2/3/16 by jconta) 

Special Instructions

Links to: GeneReviews: Lysosomal Acid Lypase Deficiency


Molecular Genetics

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.