NEUROLOGY
EPIDASD, 600 GENES
EPIDASD stands for Epilepsy – Intellectual Disability – Autism Spectrum Disorder.

Epilepsy is one of the most common groups of neurological disorders characterized by abnormal brain activity that leads to recurrent epileptic seizures and periods of unusual behavior.

Intellectual Disability is a term used for neurodevelopmental disorders characterized by limited cognitive functioning, motor and social skills, and communication ability.

Autism spectrum disorders are a group of neurological conditions characterized by impaired socializing, repetitive behaviors, and communication interactions.

 

Amplexa Genetics offers a screening solution for the described conditions by the EPIDASD panel consisting of 600 genes.

CHILDHOOD EPILEPSY, 110 GENES
The Childhood Epilepsy Panel is relevant in cases where epilepsy is the primary symptom. 25% of epilepsy cases debut in childhood, especially early childhood. The Childhood Epilepsy Panel includes more than 100 genes involved in the development of epilepsy with early-onset, epileptic encephalopathy, or developmental epileptic encephalopathy.

The panel is evaluated and updated frequently. The current version contains 110 genes.

FAMILIAL HEMIPLEGIC MIGRAINE

Familial hemiplegic migraine (FHM) is a rare subtype of migraine with an aura including fully reversible motor weakness, visual disturbance, sensory loss, and dysphasia. Hereditary FHM is generally caused by mutations in the ATP1A2, CACNA1A, or SCN1A genes.


Amplexa Genetics offers screening solutions for these genes involved in FHM. 

FOCAL CORTICAL DYSPLASIA, 21 GENES

Focal cortical dysplasia (FCD) is an abnormal formation of a focal area in the brain and represents the most common etiology in medically refractory focal epilepsies in the pediatric population.


Amplexa Genetics offers screening of genes previously described as being involved in the development of focal epilepsy due to FCD. This panel is also relevant for the test of genetic mosaicism in brain biopsies from patients with focal epilepsy who have undergone surgical treatment. Somatic mosaic mutations have been seen in FCD type 2 in a significant subset of patients. 

BRAIN MALFORMATION, 821 GENES

Brain malformation is a common term for conditions in which the brain has not developed properly during pregnancy. Most of these problems in brain structure are associated with neurological and developmental problems. The severity of the effects correlates with the severity of structural problems. Genetic tests may help establish the etiology and mechanism of the disease, and in certain cases allow for more targeted treatment.

 

Amplexa Genetics offers a screening solution for brain malformation with a designed panel consisting of 821 genes. 

FRAGILE X MENTAL RETARDATION 1 ANALYSIS, (FMR1)

Fragile X syndrome is a trinucleotide-repeat disorder caused by the expansion of CGG triplet repeat in the FMR1 (fragile X mental retardation 1) gene. The disease is characterized by developmental problems, including learning disabilities, communication problems, social interactions, and cognitive impairment.

 

Amplexa Genetics performs genetic testing for FMR1 gene mutation in women who like to undergo pregnancy.

ATAXIA

More information is coming...