DNA icon

Wolman Disease and Cholesteryl Ester Storage Disease via the LIPA Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
7733 LIPA 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7733LIPA81479 81479(x2) $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Jana Paderova, PhD

Clinical Features and Genetics

Clinical Features

Wolman disease (WD, OMIM 278000) and cholesteryl ester storage disease (CESD, OMIM 278000) are rare storage disorders due to the deficiency of lysosomal acid lipase (LAL). This deficiency leads to the progressive accumulation of triglycerides and cholesteryl esters in the lysosomes of affected tissues (Patrick and Lake Nature 222:1067-1068, 1969). Although both WD and CESD present with divergent phenotypes, the two disorders can be distinguished on the basis of the age of onset, disease course, and severity. WD is characterized by onset of symptoms during the first or second month of life and death by the end of the first year from hepatic and adrenal failure. Typical symptoms include hepatosplenomegaly, steatorrhea, bilateral adrenal calcification, and failure to thrive (Dincsoy et al. Am J Clin Pathol 81:263-269, 1984). CESD is diagnosed within the first or second decade of life and follows milder course, with survival beyond middle age. Clinical features include hepatomegaly, hypercholesterolemia, and premature atherosclerosis (Burke and Schubert Science 176:309-310, 1972; Sloan and Fredrickson J Clin Invest 51:1923-1926, 1972). Biochemically, WD is characterized by a complete absence of LAL activity, while CESD patients maintain a residual enzyme activity.

Genetics

Wolman disease (WD) and cholesteryl ester storage disease (CESD) both exhibit autosomal recessive inheritance. Variants in the LIPA gene are responsible for LAL deficiency and subsequent development of both disorders (Anderson et al. Proc Natl Acad Sci USA 91:2718-2722, 1994; Klima et al. J Clin Invest 92:2713-2718, 1993). Worldwide, at least 15 variants have been reported in patients with CESD and 25 in patients with WD (http://www.hgmd.org/). Variants causing WD produce an enzyme with no activity or no enzyme at all, while at least one CESD mutant allele produces enough residual enzymatic function to ameliorate the phenotype (Anderson et al. Mol Genet Metab 68:333-345, 1999).

The LIPA gene encodes lysosomal acid lipase, which catalyzes the hydrolysis of cholestereyl esters and triglycerides.

Clinical Sensitivity - Sequencing with CNV PG-Select

Unknown at this time.

Testing Strategy

This test provides full coverage of all coding exons of the LIPA gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Patients with features suggestive of WD or CESD and their biological relatives are candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in LIPA.

Gene

Official Gene Symbol OMIM ID
LIPA 613497
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Lysosomal Acid Lipase Deficiency AR 278000

Related Test

Name
Fetal Concerns Panel

Citations

  • Anderson, R. A., et.al. (1994). "Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease." Proc Natl Acad Sci U S A 91(7): 2718-22. PubMed ID: 8146180
  • Anderson, R. A., et.al. (1999). "Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease." Mol Genet Metab 68(3): 333-45. PubMed ID: 10562460
  • Burke, J. A., Schubert, W. K. (1972). "Deficient activity of hepatic acid lipase in cholesterol ester storage disease." Science 176(32): 309-10. PubMed ID: 5019788
  • Dincsoy, H. P., et.al. (1984). "Cholesterol ester storage disease and mesenteric lipodystrophy." Am J Clin Pathol 81(2): 263-9. PubMed ID: 6198903
  • Klima, H., et.al. (1993). "A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease." J Clin Invest 92(6): 2713-8. PubMed ID: 8254026
  • Patrick, A. D., Lake, B. D. (1969). "Deficiency of an acid lipase in Wolman's disease." Nature 222(5198): 1067-8. PubMed ID: 5787090
  • Sloan, H. R., Fredrickson, D. S. (1972). "Enzyme deficiency in cholesteryl ester storage idisease." J Clin Invest 51(7): 1923-6. PubMed ID: 5032533

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

loading Loading... ×

ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
×
Copy Text to Clipboard
×