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HelpTest ID PTENZ PTEN Gene, Full Gene Analysis
Useful For
Confirming a diagnosis of PTEN hamartoma tumor syndrome, which includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, or Proteus-like syndrome
Identifying mutations in the PTEN gene
Additional Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| COLAB | Hereditary Colon Cancer CGH Array | Yes, (order FMTT) | Yes |
Testing Algorithm
When this test is ordered, comparative genomic hybridization array will always be performed at an additional charge.
See Colonic Polyposis Syndromes Testing Algorithm in Special Instructions.
Special Instructions
Method Name
Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing, Array (aCGH)
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name
PTEN Gene, Full Gene AnalysisSpecimen Type
VariesSpecimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
Additional Information: Specimen preferred to arrive within 96 hours of draw.
Forms:
1. Molecular Genetics: Inherited Cancer Syndromes Patient Information (T519) in Special Instructions
2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.
Specimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Ambient (preferred) | |
| Frozen | ||
| Refrigerated | ||
Clinical Information
Germline mutations in the PTEN gene are associated with a rare collection of clinical syndromes referred to as PTEN hamartoma tumor syndrome (PHTS). This includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS) and Proteus-like syndrome (PLS). Although each of these syndromes has its own unique features, all 4 appear to be associated with multiple hamartomatous lesions, vascular lesions, and macrocephaly. Affected individuals have an increased risk of cancer, including cancers of the breast, endometrium, thyroid, colon, and kidney. PHTS is an autosomal dominant disorder and penetrance is believed to be quite high.
CS is a multiple hamartoma syndrome associated with trichilemmomas, mucocutaneous papillomatous papules, and macrocephaly. Affected individuals are at an increased risk for breast, thyroid, and endometrial carcinoma.
BRRS is characterized by macrocephaly, intestinal hamartomas, lipomatosis, hemangiomatosis, and pigmented macules on the glans penis.
PS is associated with congenital malformations, overgrowth, macrocephaly, hyperostosis, connective tissue nevi, and epidermal nevi.
PLS refers to individuals who have features of PS, but do not meet diagnostic criteria.
Reference Values
An interpretive report will be provided.
Cautions
A small percentage of individuals who have a diagnosis of PTEN hamartoma tumor syndrome (PHTS) may have a mutation that is not identified by this method (eg, promoter mutations, deep intronic alterations). The absence of a mutation, therefore, does not eliminate the possibility of the diagnosis of PHTS. For testing asymptomatic individuals it is important to first document the presence of a PTEN gene mutation in an affected family member.
In some cases, DNA alterations of undetermined significance may be identified.
Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.
A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.
Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.
We strongly recommend that patients undergoing predictive testing receive genetic counseling both prior to testing and after results are available.
Day(s) Performed
Performed weekly, Varies
Report Available
14 daysPerforming Laboratory
Mayo Medical Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.CPT Code Information
81321-PTEN (phosphatase and tensin homolog) (eg. Cowden syndrome, PTEN hamartoma tumor syndrome gene analysis; full gene analysis
Additional Tests
Hereditary Colon Cancer CGH Array
81228-Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants (eg, Bacterial Artificial Chromosome [BAC] or oligo-based comparative genomic hybridization [CGH] microarray analysis)