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 life.read more

Tests Available

By gene: LIPA
Sanger Sequencing
$650
Test Code: 2403
Deletion / Duplication
$680
Test Code: 2404
Sanger/Del Dup Comprehensive
$1,230
Test Code: 2405

Test Details

Technical Information
Genes: 
LIPA
Disease Groups: 
Liver Disorders
Metabolic and Endocrine Disorders
Billing
Price: 
$650
CPT Codes: 
81479 x 1
Ordering
SKU:
2403
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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 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: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 

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

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