PTEN-Related Disorders (PTEN) Deletion/Duplication
Ordering Recommendation

This is a second tier test and REQUIRES PERMISSION from  ARUP's Genetic Counselor (800-242-2787, x2141) before ordering. Preferred initial test is the sequencing and deletion/duplication test.

Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification
Within 14 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
Interpretive Data
Background Information for PTEN-Related Disorders (PTEN)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 trichilemmomas, 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.
At least 1 in 200,000 for CS; PS is rare with approximately 120 reported cases; unknown for other PTEN-associated conditions.
Autosomal dominant. All mutations causing PS and 50-90 percent causing CS are de novo.
99 percent by 30 years of age for CS.
Pathogenic PTEN gene mutations.
Clinical Sensitivity:
Up to 10 percent for BRRS; unknown for CS, PS, and PSL.
Multiplex ligation-dependent probe amplification (MLPA) to detect large PTEN coding region deletions/duplications.
Analytical Sensitivity and Specificity of MLPA:
90 and 98 percent, respectively.
: Diagnostic errors can occur due to rare sequence variations. PTEN single base pair substitutions, small deletions/duplications, regulatory region mutations, deep intronic mutations, and large deletions of exon 3 may not be detected. Deletion/duplication breakpoints will not be determined.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

CPT Code(s)
Component Test Code*Component Chart NameLOINC
2002727PTENDELDUP Specimen
2002728PTEN-Related Disorders, 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.
  • Bannayan-Riley-Ruvalcaba Syndrome
  • Cowden Syndrome
  • Proteus Syndrome
  • PTEN deletion/duplication assay