DICER1 Mutation Testing

Indications for germline DICER1 sequencing:

Testing Benefits & Indication: Testing is indicated when 1) a person is diagnosed with a DICER1-related tumor (Table 1);  2) there is a known DICER1 mutation in the family, and 3) for family planning. There is evidence in the medical literature that identification of mutation carriers improves early detection of tumors and improves outcome, especially for pleuropulmonary blastomas.

Table 1: DICER1 syndrome conditions

Pleuropulmonary blastoma (PPB) Lung cyst(s) in childhood, especially if multi-septated or multifocal Multinodular goiter or thyroid cancer in 2 or more 1st degree relatives or in an index patient with a family history consistent with DICER1 syndrome* Childhood onset multinodular goiter* or differentiated thyroid cancer* Kidney Cystic nephroma Genitourinary sarcomas including undifferentiated sarcoma* Ovarian Sertoli-Leydig cell tumor Gynandroblastoma Uterine cervical, thoracic or ovarian embryonal rhabdomyosarcoma* Genitourinary/gynecologic neuroendocrine tumors Ciliary body medulloepithelioma Nasal chondromesenchymal hamartoma Pineoblastoma Pituitary blastoma

* Multinodular goiter, differentiated thyroid cancer (papillary or follicular carcinomas), sarcomas, Wilms tumor, neuroendocrine tumors, renal cysts and macrocephaly may also be associated with other genetic predisposition syndromes. Consider testing for additional hereditary cancer predispositions and/or next generation sequencing panel that includes deletion/duplication of DICER1 and/or other genes indicated by clinical and family history

Acceptable specimen types for DICER1 sequencing:

• Whole Blood in EDTA (purple top)
• Whole Blood in PAXGene Tube
• Extracted DNA₊
• Saliva*
• Buccal Swabs*
• FFPE blocks
• FFPE scrolls and 1 H&E of block from which scrolls are taken
• Unstained Slides (minimum of 6 unstained slides)

*Blood, saliva, and cheek swab collection kits available upon request (571) 375-0755. To submit a specimen not listed above, please contact the laboratory.

+DNA must be extracted in a CLIA certified laboratory. Please indicate the lab’s CLIA number on the requisition form submitted with the specimen.

Special Instructions:

• PLEASE NOTE: All specimen containers must be labeled with the patient’s first and last name, date of birth, date and time of collection. Please include any other identifying information that you would like included in the report on the requisition form. 
• For each patient, please complete and send back the DICER1 Mutation Analysis Requisition  and the DICER1 germline testing consent paperwork. A copy of a pedigree is also helpful if the family history is informative. 
• The lab accepts specimens Monday through Friday. For samples collected on a Friday, please place them at refrigerated conditions and ship the following Monday using the standard overnight shipping option.
• Please ensure that all specimen collection supplies are used within their expiration date.
• All materials must be properly packaged and labeled to indicate the general nature of the materials being transported. The laboratory only accepts specimens considered Class B/non-infectious, and should be shipped using a FedEx Clinical Pak or equivalent.

Please ship all specimens to:

info@resourcepath.net
(571) 375-0755

Please send an email to info@resourcepath.net when the specimens have shipped and include the following information:

• Date shipped
• Carrier
• Tracking number
• Number of specimens

Cost and Turnaround Time 

Test	Sample Type	Turn Around Time	Price
DICER1  Mutation Analysis via NGS	Germline with or without tumor	4 weeks	$1,200
DICER1  Mutation Analysis via NGS	Tumor only (for confirmation of diagnosis)	4 weeks	$900
DICER1  Mutation Analysis via NGS	Germline only (family member)	4 weeks	$300