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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 of DNA analysis will be communicated in a written report to the referring professional.
DNA analysis is also appropriate for carrier testing and in prenatal testing situations after the family mutation has been identified in the proband.
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