Lysosomal Acid Lipase (Dried Blood Spot)

Test information: Lysosomal Acid Lipase (LAL) deficiency is an autosomal recessive lysosomal storage disease. Infancy: Called Early-onset LAL Deficiency or Wolman Disease- profound malabsorption, growth failure and hepatic failure. Death within 1st year of life. Late-Onset: Commonly called Cholesteryl Ester Storage Disease (CESD) is the commoner form- Hepatomegaly, high LFTs, cirrhosis, dyslipidaemia and CVD.

Specimen Type(s)

• Dried blood spot;

Other Acceptable Specimen Type(s)

N/A

Specimen Container - Adult

• Guthrie Card;

Specimen Container - Paediatric

• Guthrie Card;

Analytes

• N/A;

Part of a test profile?

No

Volume (min) of sample to be sent to laboratory

N/A

Patient Preparation, Sample Handling and Transport

N/A

Maximum add on time

N/A

Units and Reference Ranges / Interpretation

Please see the report.

UKAS number

9569

UKAS accredited test?

Yes

Comments

N/A

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