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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 GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
9101 GREM1 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9101GREM181479 81479(x2) $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

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

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Fang Xu, PhD, FACMG

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).

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


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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