WOLMAN DISEASE

LIPA Sequencing

DNA ANALYSIS

Also see: Acid Lipase - Biochemical Analysis

Lysosomal acid lipase (LIPA) is a key enzyme in the intracellular degradation of neutral lipids derived from plasma lipoproteins. The enzyme hydrolyzes cholesteryl esters and triacylglycerols lysosomal storage diseases: a severe infantile onset form, Wolman disease (WD) and a mild late-onset form, Cholesteryl ester storage disease (CESD). Both WD and CESD are inherited as autosomal recessive disorders. Sequence analysis of the entire coding region of the LIPA gene is now available on a clinical basis at Baylor Medical Genetics Laboratories.

Reasons For Referral:

Confirmation of a clinical diagnosis of Wolman Disease.
Carrier testing for individuals with a positive family history for a LIPA mutation (molecular analysis of the affected relative is recommended).
Prenatal diagnosis (known mutations only).

Testing Methodology:

PCR amplification of the exons contained in the LIPA gene coding region will be performed on patient genomic DNA. Direct sequencing of amplification products is performed in both the forward and reverse directions using automated fluorescence dideoxy sequencing methods.

Specimen Requirements:

Blood: EDTA (purple-top) tubes: Adult: 14 cc; Child: 6 cc; Infant: 2-3 cc

Turnaround Time:

Index: 4 weeks

CPT Codes and Prices:

Index: 83891, 83898x11, 83894, 83904x22, 83909x22, 83912
Known Familial Mutation: 83891, 83898, 83894, 83904x2, 83909x2, 83912

Shipping Information

Forms:

>> Gene Sequencing Requisition
>> Prenatal Requisition

References:

Anderson RA, Bryson GM, Parks JS (1999). Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. Mol. Genet. Metab. 68(3): 333-345.

Test Codes:

Index: 6430
Known Familial Mutation: 6435
Prenatal: 6440