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Non-Syndromic Monogenic Obesity via the LEP 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
LEP 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
15175LEP81479 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


  • Marissa Cloutier, PhD

Clinical Features and Genetics

Clinical Features

The non-syndromic form of monogenic obesity is a group of single gene disorders with obesity as an isolated or predominant feature. Clinical features include severe early-onset obesity, hyperphagia, increased linear growth, delayed puberty, preserved reproductive function, hypocortisolemia and hyperinsulinemia (Albuquerque et al. 2015; Pigeyre et al. 2016).


The non-syndromic form of monogenic obesity was originally considered to be due to homozygous or compound heterozygous deleterious variants in causative genes, but heterozygous loss-of-function variants in these genes have been also widely reported to result in obesity, some of which can be incompletely penetrant (Albuquerque et al. 2015; Pigeyre et al. 2016). Known causative genes encode proteins in the leptin–melanocortin signaling pathway present in the hypothalamus with roles in regulation of food intake and energy expenditure.

The LEP gene (two coding exons) encodes leptin, which is secreted by white adipocytes and plays an important role in the regulation of body weight. So far, documented genetic defects of LEP for monogenic obesity include missense and truncating variants (Human Gene Mutation Database). Large deletions and duplications have not been reported in patients with monogenic obesity (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PG-Select

In a cohort of randomly selected 62 Pakistani children with early onset of severe obesity from consanguineous families, pathogenic LEP variants were found in 16.1% of the probands (Saeed et al. 2012). In another study, nine (36%) of 25 obese Pakistani children were found to have leptin deficiency and are homozygous for pathogenic LEP variants (Fatima et al. 2011).

Large deletions and duplications affecting the LEP gene have not been reported in patients with monogenic obesity (Human Gene Mutation Database).

Testing Strategy

This test is performed using Next-Generation sequencing with additional Sanger sequencing as necessary.

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

Indications for Test

Candidates for this test are patients with the non-syndromic form of monogenic obesity. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in LEP.


Official Gene Symbol OMIM ID
LEP 164160
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Obesity, Morbid, Due to Leptin Deficiency AR 614962


  • Albuquerque D. et al. 2015. Molecular Genetics and Genomics. 290: 1191-221. PubMed ID: 25749980
  • Fatima W. et al. 2011. International Journal of Pediatric Obesity. 6:419-27 PubMed ID: 21854111
  • Human Gene Mutation Database (Bio-base).
  • Pigeyre M. et al. 2016. Clinical Science. 130: 943-86. PubMed ID: 27154742
  • Saeed S. et al. 2012. Molecular Genetics and Metabolism. 106:121-6 PubMed ID: 22463805


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)

1) Select Test Type

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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