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Test ID LALBS Lysosomal Acid Lipase, Blood Spot

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.

Genetics Test Information

This test provides diagnostic testing for patients with clinical signs and symptoms suspicious for lysosomal acid lipase deficiency (LALD).

 

LALD is expressed phenotypically as infantile-onset Wolman disease or later-onset cholesterol ester storage disease.

Method Name

Fluorometric Enzyme Assay

Reporting Name

Lysosomal Acid Lipase, BS

Specimen Type

Whole blood


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 (formerly Ahlstrom 226) filter paper, Munktell TFN, and Whatman Protein Saver 903 Paper

Specimen Volume: 2 Blood spots

Collection Instructions:

1. An alternative blood collection option for a patient 1 year of age or older is a fingerstick. See Dried Blood Spot Collection Tutorial for how to collect blood spots via fingerstick.

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

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

4. Do not stack wet specimens.

5. 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 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

Reference Values

≥21.0 nmol/hour/mL

Day(s) Performed

Friday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

Test Classification

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

Report Available

8 to 15 days

NY State Approved

Yes

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 Client Test Request (T728)