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Familial Lipoprotein Lipase Deficiency via the LPL 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
LPL 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7735LPL81479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

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

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

Turnaround Time

3 weeks on average for standard orders or 2 weeks 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.


Genetic Counselors


  • Siwu Peng, PhD

Clinical Features and Genetics

Clinical Features

Familial lipoprotein lipase (LPL) deficiency (Hyperlipoproteinemia Type 1) is characterized by very severe hypertriglyceridemia with episodes of recurrent abdominal pain, acute pancreatitis, eruptive cutaneous xanthomata, failure to thrive in infancy and hepatosplenomegaly. It usually manifests in early childhood (Blackett et al. 2013). Lipoprotein lipase is a critical enzyme in hydrolysation of serum triglycerides (TG) in chylomicrons (CM) and very low –density lipoproteins (VLDL). Deficiency of lipoprotein lipase prevents affected individuals from properly digesting certain fats and results in massive accumulation of fatty droplets called chylomicrons (chylomicronemia). The prevalence of lipoprotein lipase (LPL) deficiency is one in a million in the general population, with a carrier frequency in the French-Canadian population of 2.5% due to a founder effect (Rahalkar et al. 2009; Gagné et al. 1989).


Familial Lipoprotein Lipase Deficiency is an autosomal recessive disorder caused by pathogenic variants in LPL. LPL contains 10 exons, encodes 475 amino acids, and spans over 30 kb in Chromosome 8p22 (Monsalve et al. 1990). LPL encodes Lipoprotein Lipase, which is expressed in adipose tissue, skeletal muscle, kidney, intestine and neonatal liver (Siafakas et al. 1999). Causative variants in LPL decrease lipoprotein lipase activity interrupting lipid metabolism. Although missense variants are most common, splicing, nonsense, deletion, duplication and large rearrangement variants have also been reported (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PG-Select

Clinical sensitivity is expected to be high as LPL is the only known causative gene for Familial Lipoprotein Lipase Deficiency (Brunzell 2011). In addition, sequencing analysis detects ~97% of pathogenic variants while deletion/duplication analysis detects ~3% of causative variants (Brunzell 2011).

Testing Strategy

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

Indications for Test

All patients with symptoms suggestive of lipoprotein lipase deficiency are candidates for this test. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in LPL.


Official Gene Symbol OMIM ID
LPL 609708
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Hyperlipoproteinemia, Type I AR 238600

Related Test

Comprehensive Cardiology Panel


  • Blackett P. et al. 2013. Journal of Clinical Lipidology. 7: 132-9 PubMed ID: 23415432
  • Brunzell J.D. 2011. Familial Lipoprotein Lipase Deficiency. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301485
  • Gagné C. et al. Canadian Medical Association Journal. 140: 405-11. PubMed ID: 2914262
  • Human Gene Mutation Database (Bio-base).
  • Monsalve M.V. et al. 1990. The Journal of Clinical Investigation. 86: 728-34. PubMed ID: 1975597
  • Rahalkar A.R. et al. 2009. Canadian Journal of Physiology and Pharmacology. 87: 151-60. PubMed ID: 19295657
  • Siafakas C.G. et al. 1999. Journal of Pediatric Gastroenterology and Nutrition. 29:95-8. PubMed ID: 10400113


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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

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View Ordering Instructions

1) Select Test Method (Platform)

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2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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