NEUROLOGY
EPIDASD, 600 GENES
Epidasd panel for Epilepsy - Intellectual Disability - Autism Spectrum Disorder. This panel is relevant for patients suffering from intellectual disability and/or autism spectrum disorders with and without epilepsy. Epidasd is also relevant for patients with brain malformations. 

The panel is evaluated and updated frequently. The current version contains 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 is a clinically and genetically heterogeneous migraine with an aura including fully reversible motor weakness and visual, sensory, and/or language symptoms.
FHM can occur as an autosomal dominant type of heritable migraine, generally linked to CACNA1A, ATP1A2, and SCN1A.
 
The panel is evaluated and updated frequently. The current version includes a fourth gene, PRRT2, a proposed
linked factor.

FOCAL CORTICAL DYSPLASIA, 21 GENES

Focal epilepsy may be treated with medication and occasionally with diet, nerve stimulation, or surgery, especially if the condition is due to a scar or other lesion in the brain. The panel consists of 17 genes previously described as being involved in the development of focal epilepsy due to cortical dysplasia. In addition, the panel contains four new candidate genes.

The panel is evaluated and updated frequently. The current version contains 21 genes.

BRAIN MALFORMATION, 821 GENES

Brain malformation is a common term for conditions where the brain has not formed correctly during pregnancy. Most of these problems in brain structure are associated with neurological and developmental issues. Amplexa Genetics performs genetic tests to establish the cause, etiology, and mechanism of the disease, thereby allowing more targeted treatment.

 

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