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Test Code PTEN Pnl PTEN Sequencing and Deletion/Duplication

Important Note

This test includes concurrent PTEN gene sequencing and deletion/duplication analysis.

Clinical System Name

PTEN Sequencing and Deletion/Duplication





The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and Proteus-like syndrome.  Due to increase risk for malignancies associated with PHTS, genetic testing is recommended for at-risk patients and relatives of affected proband. Increased cancer surveillance and assessments of prophylactic treatment are available for those who carry PTEN mutations. PTEN testing is also recommended for individuals diagnosed with Lhermite-Duclos disease, even in the absence of other signs of PHTS. Moreover, the American College of Medical Genetics has included PTEN testing as part of their diagnostic evaluation for Autism Spectrum Disorder.



Sample Requirements

Preferred Specimen: Whole Blood

Container(s): Lavender Top/EDTA, Yellow/ACD

Preferred Vol: 2 - 5 mL

Minimum Vol: 1 mL for small infants


Alternative Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 15 µg of purified DNA at a concentration of at least 20 µg/ml 

Minimum Vol:


Alternative Specimen: Oral Rinse (30-40 mL)|Buccal Swab

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Deliver blood to Sendouts refrigerator rack. Store labels in the clear plastic box on front of the CPA fridge.


Off-site collection: Send whole blood refrigerated.


Specimen Type Temperature Time
Whole blood Room temp 3 d
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely



N 3 w


Performing Laboratory



Department:  GeneDX, 207 Perry Parkway, Gaithersburg, MD 20877
Phone Number: (301) 519-2100


Reference Range

Interpretive report is provided.


Bi-directional sequence of the coding exons 1-9 and the core promoter region is obtained and analyzed. Concurrently, targeted array CGH analysis with exon-level resolution (ExonArryDx) is performed to evaluate for a deletion or duplication of one or more exons of this gene or the 5' regulatory region.

Special Instructions

Links to:



Test info sheet

Clinical Utility

PTEN Hamartoma Tumor syndrome (PHTS) includes the following syndromes:


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by macrocephaly, developmental delay, learning dissability, hamartomatous intestinal polyposis, and pigmented penile macules.

Cowden syndrome (CS) is a multiple hamartoma syndrome associated with a high risk of developing both benign and malignant tumors of the thyroid, breast, and endometrium.

PTEN-Related Proteus syndrome (PS) is a variable disorder involving disproportionate overgrowth of multiple tissues and body parts.

Autism Spectrum Disorder (ASD) is a common developmental disorder involving impairments in language and social interaction. PTEN mutations are specifically associated with autism cases accompanied by macrocephaly.


Send Out Instructions

Reference Test Name:

PTEN Gene Sequencing and Del/Dup

Reference Test Number: 195
Instructions: GeneDx accepts Saturday delivery. Whole blood specimens may be stored refrigerated for up to 7 days prior to shipping. Ship overnight via FedEx M - F, ambient temperature.