Non-Syndromic Monogenic Obesity via the POMC Gene
Summary and Pricing 
Test Method
Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 15191 | POMC | 81479 | 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.
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).
Genetics
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 POMC gene (two coding exons) encodes proopiomelanocortin, which is the precursor of melanocortins. So far, documented genetic defects of POMC include missense, regulatory, nonsense, and small deletion/insertions. Large deletions and duplications have not been reported (Human Gene Mutation Database).
Clinical Sensitivity - Sequencing with CNV PG-Select
In a study of 500 patients with severe early-onset obesity, POMC pathogenic variants were found in seven unrelated individuals (1.4%) (Creemers et al. 2008).
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 POMC 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 POMC.
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 POMC.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| POMC | 176830 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Diseases
| Name | Inheritance | OMIM ID |
|---|---|---|
| Obesity | AD,AR | 601665 |
| Proopiomelanocortin Deficiency | AR | 609734 |
Citations
- Albuquerque D. et al. 2015. Molecular Genetics and Genomics. 290: 1191-221. PubMed ID: 25749980
- Creemers J.W. et al. 2008. The Journal of Clinical Endocrinology and Metabolism. 93: 4494-9. PubMed ID: 18697863
- Human Gene Mutation Database (Biobase).
- Pigeyre M. et al. 2016. Clinical Science. 130: 943-86. PubMed ID: 27154742
Ordering/Specimens
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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ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.