PTEN Gene Sequencing Test Cost & Procedure

A PTEN genetic test searches for a modification, or mutation, in the PTEN gene. The fundamental elements of heredity that come from your mother and father are called genes. The PTEN gene aids in halting tumor growth. It has the label "tumor suppressor." A tumor suppressor gene is comparable to a car's brakes.

Description

PTEN germline mutations are the source of the autosomal dominant disorder known as PTEN hamartoma tumor syndrome (PHTS). The PHTS, which comprises the Proteus syndrome, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome, is linked to a tendency for both benign and malignant hamartoma tumors. The majority of people with a PTEN mutation will exhibit some illness symptoms, while there is a great deal of variation among those who are affected. It is expected that PHTS will penetrate the body at a rate of about 80%.

Thyroid, breast, and endometrial malignancies are more common in people with Cowden syndrome (CS).

Hemihypertrophy and subcutaneous tumors are two hallmarks of Proteus syndrome (PS), and those who have PS-like symptoms but do not match the diagnostic criteria are said to have the condition.

Indications

• Syndrome Bannayan-Riley-Ruvalcaba
• 1st Cowden syndrome Syndrome Lhermitte-Duclos
• The Proteus Syndrome
• A syndrome similar to Proteus

Testing Techniques

The PTEN gene's complete coding region, as well as its intron/exon boundaries, are tested using Sanger sequencing.

Clinical Sensitivity

Examination Sensitivity

A PTEN modification that can be determined by sequencing will be present in about eighty percent of patients with CS, sixty percent of people with BRRS, and twenty percent of patients with PS/PSL syndrome.

To find deletions, duplications, and promoter mutations that have been described in PTEN, further genetic testing may be advised for patients with normal sequencing results.

Analytical Awareness

This test can identify up to 85% of mutations associated with PTEN-related hamartoma tumor syndromes. For the detection of nucleotide alterations, minor deletions, and insertions in the regions under study, DNA sequencing has a sensitivity of over 99%.

This test does not pick any mutations in regulatory regions or other untranslated areas. This test approach will not detect massive insertions, large deletions involving complete single exons or multiple exons, or other complicated genetic events that have been documented in PTEN. Rare primer site variations could produce inaccurate results.

A mutation in PTEN will be found in roughly 10% of those with Bannayan-Riley-Ruvalcaba syndrome, according to deletion/duplication analysis. About 10% of Cowden syndrome patients will have mutations found through PTEN promoter analysis.