Short Description

Alexander disease is a type of leukodystrophy characterized by the destruction of the myelin sheath and abnormal protein deposits known as Rosenthal fibers. Most cases of Alexander disease begin before 2 years of age - the infantile form which typically includes an enlarged brain & head size (megalencephaly), seizures, stiffness in the arms and/or legs (spasticity), intellectual disability and developmental delay. Less frequently, onset occurs later in childhood - the juvenile form or in adulthood.

PreTest Information

Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Detail Description

Nx GEN SEQUENCING: ALEXANDER DISEASE Test cost INR:23400 symptoms diagnosis

Alexander Disease is a rare genetic disorder that affects the nervous system. It is caused by mutations in the GFAP gene, which provides instructions for making a protein called glial fibrillary acidic protein. This protein is found in cells called astrocytes, which provide support and nourishment to nerve cells in the brain and spinal cord.

There are three types of Alexander Disease: infantile, juvenile, and adult. Infantile Alexander Disease is the most common and severe form, with symptoms appearing within the first two years of life. Juvenile and adult forms are less common and have milder symptoms.

Symptoms of Alexander Disease

The symptoms of Alexander Disease vary depending on the type and severity of the disorder. Infantile Alexander Disease is characterized by:

• Seizures
• Feeding difficulties
• Weak muscle tone (hypotonia)
• Developmental delays
• Enlarged head (macrocephaly)
• Intellectual disability

Juvenile and adult forms of Alexander Disease may cause:

• Difficulty swallowing
• Speech abnormalities
• Weakness
• Loss of coordination
• Vision and hearing problems
• Cognitive impairment

Diagnosis of Alexander Disease

Alexander Disease can be diagnosed through a combination of clinical evaluation, imaging tests (such as MRI), and genetic testing. Nx GEN SEQUENCING is a type of genetic testing that analyzes a person's DNA for mutations in the GFAP gene. This test can help confirm a diagnosis of Alexander Disease and identify the specific type of the disorder.

Nx GEN SEQUENCING for Alexander Disease Testing at DNA Labs India

At DNA Labs India, we offer Nx GEN SEQUENCING for Alexander Disease testing at a cost of INR:23400. This test uses advanced technology to analyze a person's DNA for mutations in the GFAP gene, providing accurate and reliable results.

If you or a loved one are experiencing symptoms of Alexander Disease, it is important to seek medical attention. A diagnosis can help guide treatment and management of the disorder. Contact DNA Labs India today to learn more about Nx GEN SEQUENCING for Alexander Disease testing.

Alexander disease is a type of leukodystrophy characterized by the destruction of the myelin sheath and abnormal protein deposits known as Rosenthal fibers. Most cases of Alexander disease begin before 2 years of age - the infantile form which typically includes an enlarged brain & head size (megalencephaly), seizures, stiffness in the arms and/or legs (spasticity), intellectual disability and developmental delay. Less frequently, onset occurs later in childhood - the juvenile form or in adulthood.