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Test Code LALBS Lysosomal Acid Lipase, Blood Spot

Reporting Name

Lysosomal Acid Lipase, BS

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

Evaluation of patients with a clinical presentation suggestive of lysosomal acid lipase deficiency using blood spot specimens

 

This test is not useful to determine carrier status for cholesteryl ester storage disease or Wolman disease.

Method Name

Fluorometric Enzyme Assay


Necessary Information


Provide a reason for testing with each specimen.



Specimen Required


Supplies: Card-Blood Spot Collection (Filter Paper) (T493)

Collection Container/Tube:

Preferred: Blood spot collection card

Acceptable: PerkinElmer 226 filter paper, Munktell TFN, and Whatman Protein Saver 903 Paper

Specimen Volume: 2 Blood spots

Collection Instructions:

1. Completely fill at least 2 circles on the filter paper card (approximately 100 microliters blood per circle).

2. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.

3. Let blood dry on the filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.

4. Do not expose specimen to heat or direct sunlight.

5. Do not stack wet specimens.

6. Keep specimen dry.

Additional Information:

1. For collection instructions, see Blood Spot Collection Instructions.

2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777).

3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800).


Specimen Type

Whole blood

Specimen Minimum Volume

1 Blood spot

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Refrigerated (preferred) 28 days FILTER PAPER
  Frozen  90 days FILTER PAPER
  Ambient  7 days FILTER PAPER

Reject Due To

Shows serum rings
Multiple layers		 Reject

Reference Values

≥21.0 nmol/h/mL

Interpretation

Enzyme activity below 1.5 nmol/h/mL in properly submitted samples is consistent with lysosomal acid lipase deficiency: Wolman disease or cholesteryl ester storage disease.

 

Normal results (≥21.0 nmol/h/mL) are not consistent with lysosomal acid lipase deficiency.

Day(s) Performed

Friday

Report Available

8 to 15 days

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
LALBS Lysosomal Acid Lipase, BS 73958-1

 

Result ID Test Result Name Result LOINC Value
62955 Lysosomal Acid Lipase, BS 73958-1
36341 Reviewed By 18771-6
36340 Interpretation (LALBS) 59462-2

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602)

3. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

-Biochemical Genetics Test Request (T798)

-Gastroenterology and Hepatology Test Request (T728)