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Test Code LIPA KNW LIPA Known Mutation

Clinical System Name

LIPA Known Mutation Analysis



CESD Known Mutation

Cholesterol Ester Storage Disease Known Mutation

Lysosomal Acid Lipase Known Mutation

Wolman Disease Known Mutation


This test involves targeted analysis for mutations previously identified through clinical testing of a family member or  research testing of the individual.  It can be used for carrier testing at-risk relatives and prenatal testing for confirmed carriers. Mutations must be known. For full gene sequencing please see LIPA Sequencing

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 Counselors:

Reference Range

Interpretive report will be provided


Method: PCR + Sequencing


Limitations: This test is for targeted known mutation analysis only.  Mutations must be known

CPT Codes

81479 (updated 2/3/16 by jconta)

Special Instructions

Please provide copies of proband reports when requesting known mutation analysis for cases NOT performed by Seattle Children's Lab.


Links to: GeneReviews: Lysosomal Acid Lipase 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.