DNA Diagnostic Testing for Autosomal Recessive Cholesteryl Ester Storage disease (LIPA, CESD, LAL, Wolman)

  • 617-726-5721

Lab Home | Services | Fee Schedule

Test Description

We currently offer DNA mutation analysis of the LIPA gene using PCR amplification and direct DNA sequencing of all 10 exons.  The test should be mainly used as a secondary test to identify DNA mutations after the LAL enzyme test has shown deficiency.

Sample Preparation: Sample Preparation (PDF)

Results

Results of DNA analysis will be communicated in a written report to the referring professional.

Reason

DNA analysis is also appropriate for carrier testing and in prenatal testing situations after the family mutation has been identified in the proband.  

Updated 7/27/2012