Hereditary Mixed Polyposis Syndrome via the GREM1 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 | |
|---|---|---|---|---|---|
| 9101 | GREM1 | 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
Hereditary mixed polyposis syndrome (HMPS) is a rare condition characterized by autosomal dominant inheritance of multiple types of colorectal polyps, including serrated lesions, juvenile polyps, Peutz-Jeghers polyps and conventional adenomas. People with HMPS also have an increased risk for colorectal cancer (CRC), but no extra-colonic features have been identified (Whitelaw et al. 1997; Jaeger et al. 2012).
Genetics
A founder pathogenic variant, heterozygous 40 kb duplication located upstream of GREM1, has been identified in multiple families of Ashkenazi Jewish descent with HMPS (Jaeger et al. 2012; Laitman et al. 2015). An activating 16 kb duplication in the regulatory region of GREM1 was also found to be disease-causing in a family with atypical polyposis syndrome (Rohlin et al. 2016). These duplications were demonstrated to lead to increased and ectopic expression of GREM1 (Jaeger et al. 2012). The GREM1 gene encodes secreted BMP antagonist Gremlin, which plays a role in organogenesis, body patterning, and tissue differentiation. This duplication is thought to cause reduced activity of the bone morphogenetic protein pathway and promote multiple stages of colorectal tumorigenesis. To date, only duplications have been identified in GREM1 related HMPS (Human Gene Mutation Database).
Clinical Sensitivity - Sequencing with CNV PG-Select
To date, only duplications have been identified in GREM1-related Hereditary Mixed Polyposis Syndrome (HMPS) (Human Gene Mutation Database).
Testing Strategy
This test provides full coverage of the single coding exon of the GREM1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.
Indications for Test
This testing is recommended for patients with >10 colorectal polyps of mixed histology per the American College of Medical Genetics and Genomics (ACMG) and National Society of Genetic Counselors (NSGC) guidelines (Hampel et al. 2015).
This testing is recommended for patients with >10 colorectal polyps of mixed histology per the American College of Medical Genetics and Genomics (ACMG) and National Society of Genetic Counselors (NSGC) guidelines (Hampel et al. 2015).
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| GREM1 | 603054 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|
Related Test
| Name |
|---|
| Colorectal Cancer Panel |
Citations
- Hampel H. et al. 2015. Genetics in Medicine. 17: 70-87. PubMed ID: 25394175
- Human Gene Mutation Database (Bio-base).
- Jaeger E. et al. 2012. Nature Genetics. 44: 699-703. PubMed ID: 22561515
- Laitman Y. et al. 2015. Genetics Research. 97: e11. PubMed ID: 25992589
- Rohlin A. et al. 2016. Genes, Chromosomes & Cancer. 55: 95-106. PubMed ID: 26493165
- Whitelaw S.C. et al. 1997. Gastroenterology. 112: 327-34. PubMed ID: 9024286
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.