Lysosomal acid lipase deficiency also called as cholesteryl ester storage disease (CESD, MIM 278000) and Wolman disease (MIM 278000) are autosomal recessive disorders caused by mutations in the LIPA gene, which codes for lysosomal acid lipase/cholesteryl ester hydrolase. Wolman disease is more severe with onset in infancy and death occurring early in more

Tests Available

By gene: LIPA
Sanger Sequencing
Test Code: 2421
Deletion / Duplication
Test Code: 2422
NGS/Del Dup Comprehensive
Test Code: 2423

Test Details

Technical Information
Disease Groups: 
Liver Disorders
Metabolic and Endocrine Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 1 to 2 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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