Clinical diagnostic tests

Clinical diagnostic tests

Agreeing with your trusted specialist on the opportunity for further investigating also in the genetic area is crucial to classify many syndromes.

The Array test examines all chromosomes at the same time and sometimes this allows the diagnosis of this syndrome, as it is discovered that a part of the X chromosome on which the Nexmif gene is located is missing.
Today, by means of a new genetic technique called exome sequencing that analyzes the entire DNA, this diagnosis can be made without having been suspected or specifically researched.
In the event that the patient suffers from epileptic seizures, usually the examination of choice is the epilepsy panel, which includes a progressively increasing number of genes involved in epileptic syndromes over the years. Some of these genetic tests will also be done on the parents.

The EEG with video recording is the examination of choice for cases with suspected epilepsy, as it measures the electrical activity of the brain. In fact, epileptic anomalies may be found: nothing typical of the syndrome but common to other forms of epilepsy.

In children with developmental delay, an MRI scan of the brain is often performed. There are usually no typical anomalies for this syndrome. It may happen that the volume of the brain is lower than age average.

Children with developmental delay often undergo metabolic blood and urine tests to exclude any metabolic disease that could explain the developmental delay. These tests do not give typical results in Nexmif patients.