Familial Lipoprotein Lipase Deficiency

Published 13/10/2017

Familial Lipoprotein Lipase Deficiency
Sequencing of the LPL gene

Genes
(full coding
region):		  LPL
Lab method: Sanger sequencing
TAT: 2-4 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the LPL gene

Genes: LPL
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Differential diagnosis
3. Carrier testing for at-risk relatives
4. Genetic counseling

Familial lipoprotein lipase (LPL) deficiency is characterized by very severe hypertriglyceridemia with episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. Symptoms of the disease typically develop in childhood.

Familial LPL deficiency is inherited in an autosomal recessive manner. Mutations in the LPL gene cause the disease.

The prevalence of familial LPL deficiency is approximately one in 1,000,000 worldwide.

References:
Burnett JR et al 1999. Familial Lipoprotein Lipase Deficiency. GeneReviews®. Last Update: June 22, 2017.
Viljoen A, Wierzbicki AS. Diagnosis and treatment of severe hypertriglyceridemia. Expert Rev Cardiovasc Ther. 2012;10:505–14.