PTEN-Related Disorders (PTEN) Sequencing and Deletion/Duplication
2002470
Ordering Recommendation
Diagnostic testing for PTEN-related disorders. Predictive testing for PTEN-related disorders.
Mnemonic
PTEN FGA
Methodology
Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
Within 35 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
Interpretive Data
Background Information for: PTEN-Related Disorders (PTEN) Sequencing and Deletion/Duplication
Characteristics of PTEN hamartoma tumor syndrome (PHTS):
Clinical findings are highly variable and include Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome (PSL).
CS: Multiple hamartoma syndrome with increased risk for malignant and benign tumors of the breast, thyroid, and endometrium. Other associated findings include macrocephaly and mucocutaneous lesions (facial trichilemmonas, palmoplantar keratoses, and papillomatous papules).
BRRS: Characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, hemangiomas, and pigmented macules of the glans penis.
PS: A progressive disorder demonstrating mosaic distribution of associated lesions. Findings include hamartomatous tissue overgrowth, hyperostoses, connective tissue and epidermal nevi, dysregulated adipose tissue, vascular malformations, and other congenital malformations.
PSL: Describes individuals with significant features of PS who do not meet clinical diagnostic criteria for PS.
Incidence:
At least 1 in 200,000 for CS; PS is rare with approximately 120 reported cases; unknown for other PTEN-associated conditions.
Inheritance:
Autosomal dominant. All mutations causing PS and 50-90 percent causing CS are de novo.
Penetrance:
99 percent by 30 years of age for CS.
Cause:
Pathogenic PTEN gene mutations.
Clinical Sensitivity:
85 percent for CS, 65 percent for BRRS, 50 percent for PSL, and 20 percent for PS.
Methodology:
Bidirectional sequencing of the PTEN promoter, coding region and intron-exon boundaries. Multiplex ligation-dependent probe amplification (MLPA) to detect large PTEN coding region deletions/duplications.
Analytical Sensitivity and Specificity of Sequencing:
99 percent.
Analytical Sensitivity and Specificity of MLPA:
90 and 98 percent, respectively.
Limitations
: Diagnostic errors can occur due to rare sequence variations. Some regulatory region mutations, deep intronic mutations and large deletions of single exon 3 will not be detected. Breakpoints for large deletions/duplications will not be determined.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
Note
CPT Code(s)
81321, 81323
Components
Component Test Code*Component Chart Name
2002471PTEN FGA Specimen
2002473PTEN-Related Disorders, Seq and Del/Dup
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Cross References
  • Bannayan-Riley-Ruvalcaba Syndrome (BRRS)
  • PTEN sequencing and deletion/duplication assay