DNA icon

DICER1 Syndrome via the DICER1 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
DICER1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3041DICER181479 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


  • Melanie Jones, PhD, FACMG

Clinical Features and Genetics

Clinical Features

DICER1 syndrome, formerly known as pleuropulmonary blastoma (PPB) familial tumor and dysplasia syndrome, causes many different types of tumors including pleuropulmonary blastomas, cystic nephromas, ovarian Sertoli-Leydig type tumors and infrequently other tumor types. It also includes familial multinodular goiter (MNG; Foulkes et al. Human Mutation, 32(12): 1381–1384, 2011; Sabbaghian et al. J Med Genet 49:417-419, 2012). PPBs are rare pediatric lung tumors that occur before 6 years of age (Priest et al. J Pediatr 128:220-4, 1996). Cystic nephroma is a rare benign renal tumor that presents as a multicystic renal mass without solid nodules and occurs 50% of the time in children less than 4 years of age and 30% of the time in 50-70 year olds (Stamatiou et al. Cases J 1:267, 2008). Ovarian Sertoli-Leydig tumors, sex cord tumors that exhibit testicular differentiation, typically appear in affected individuals in their 20s and 30s (Young et al. Am J Surg Pathol 9:543-69, 1985).


DICER1 syndrome is caused by variants in DICER1, which encodes an RNase endonuclease that is involved in the production of microRNAs (miRNAs). miRNAs are non-protein-coding small RNAs that control post-transcriptional mRNA expression of over 30% of protein-coding genes. During transcription of miRNAs, they are required to be processed from their original long form, pri-miRNAs, to pre-miRNAs, where DICER1 processing results in a double stranded miRNA duplex, which is then unwound to form mature miRNAs. Deregulation of miRNA processing and expression has been implicated in numerous cancers. DICER1 variants can be inherited or arise de novo. DICER1 syndrome acts through an autosomal dominant mechanism, and DICER1 variants are hypothesized to result in haploinsufficiency (Slade et al. J Med Genet 48:273-278, 2011); however, DICER1 variants may exhibit incomplete penetrance as some individuals with DICER1 variants appear phenotypically normal (Hill et al. Science 325:965, 2009).

Clinical Sensitivity - Sequencing with CNV PG-Select

The clinical sensitivity of DICER1 variants has not been firmly established; however, Slade et al. (2011) found DICER1 variants in 79% (11/14) of PPB cases, 67% (2/3) of cystic nephroma cases, and 57% (4/7) of ovarian Sertoli- Leydig-type cases. Germline DICER1 variants in other types of tumors are rare (Slade et al. J Med Genet 48:273-278, 2011; Foulkes et al. Human Mutation, 32(12): 1381–1384, 2011). Several families have been reported to have familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors (Rio Frio et al. JAMA. Jan 5;305(1):68-77, 2011).

Testing Strategy

This test provides full coverage of all coding exons of the DICER1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Individuals with tumor types that have been found in DICER1 syndrome, including pleuropulmonary blastomas, cystic nephromas, and ovarian Sertoli-Leydig type tumors; in addition to multinodular goiter (MNG). People with a family history of DICER1 syndrome tumor types or MNG. This test is specifically designed for heritable germline variants and is not appropriate for the detection of somatic variants in tumor tissue.


Official Gene Symbol OMIM ID
DICER1 606241
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Renal Cancer Panel


  • Foulkes et al. (2011). "Extending the phenotypes associated with DICER1 mutations." Human Mutation, 32(12): 1381–1384. PubMed ID: 21882293
  • Hill et al. (2009). "DICER1 mutations in familial pleuropulmonary blastoma." Science 325:965. PubMed ID: 19556464
  • Priest et al. (1996). "Pleuropulmonary blastoma: a marker for familial disease." J Pediatr 128:220-4. PubMed ID: 8636815
  • Rio Frio et al. (2011).  "DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors." JAMA Jan 5;305(1):68-77. PubMed ID: 21205968
  • Sabbaghian et al. (2012). "Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma." J Med Genet 49:417-419. PubMed ID: 22717647
  • Slade et al. (2011). "DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome." J Med Genet 48:273-278. PubMed ID: 21266384
  • Stamatiou et al. (2008). "Cystic nephroma: a case report and review of the literature." Cases J 1:267. PubMed ID: 18947428
  • Young and Scully (1985). "Ovarian Sertoli-Leydig cell tumors. A clinicopathological analysis of 207 cases." Am J Surg Pathol 9:543-69. PubMed ID: 3911780


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

loading Loading... ×


An error has occurred while calculating the price. Please try again or contact us for assistance.

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.
Total Price: loading
Patient Prompt Pay Price: loading
A patient prompt pay discount is available if payment is made by the patient and received prior to the time of reporting.
Show Patient Prompt Pay Price
Copy Text to Clipboard