Private Phelan-McDermid Syndrome - karyotype + FISH Blood Test in the City of London

Genetic testing analyses DNA to identify changes (variants) in genes that may be associated with inherited conditions, carrier status, or predisposition to certain diseases.

This type of testing is typically carried out when there is a clinical indication, such as a family history of a genetic condition, characteristic clinical features, or as part of a diagnostic pathway recommended by a clinician.

What the Phelan-McDermid Syndrome - karyotype + FISH Analyses

• Targeted gene sequencing — analyses specific genes associated with the condition under investigation
• Deletion and duplication analysis — detects missing or extra segments of DNA
• Variant classification — identified variants are classified according to international guidelines

When This Test May Be Appropriate

• A clinical suspicion of a specific genetic condition
• A family history of an inherited disorder
• Carrier testing for reproductive planning
• Confirmation of a clinical diagnosis
• As recommended by a geneticist or specialist clinician

Understanding Your Results

Results for genetic tests may take longer than standard blood tests. For this test, results are typically available within 12-17 days".

Genetic test results are complex and may include findings classified as pathogenic (disease-causing), likely pathogenic, variants of uncertain significance (VUS), or benign. The clinical significance depends on the specific variant and your clinical and family history.

We strongly recommend that genetic test results are discussed with a clinical geneticist or the specialist who requested the test. Genetic counselling may also be appropriate.