Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATP7A gene for Occipital horn syndrome

PreTest Information

Clinical History of Patient who is going for ATP7A Gene Occipital horn syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATP7A Gene Occipital horn syndrome

Detail Description

ATP7A Gene Occipital Horn Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Occipital Horn Syndrome (OHS) is a genetic disorder that is caused by mutations in the ATP7A gene. This gene is responsible for creating a protein that helps to transport copper throughout the body. When the ATP7A gene is mutated, it can lead to a copper deficiency, which can cause a variety of symptoms.

Symptoms of Occipital Horn Syndrome

• Brittle bones
• Abnormalities in the shape of the skull
• Joint pain and stiffness
• Weak muscles
• Developmental delays
• Short stature

It is important to note that not all individuals with OHS will experience all of these symptoms. The severity of the symptoms can vary widely between individuals.

Diagnosis of Occipital Horn Syndrome

The diagnosis of OHS is typically made based on a combination of clinical symptoms and genetic testing. If a healthcare provider suspects that an individual may have OHS, they will likely order genetic testing to confirm the diagnosis. DNA Labs India offers NGS genetic DNA testing for OHS at a cost of INR 20000. This test can help to identify mutations in the ATP7A gene that are associated with OHS.

If you or a loved one is experiencing symptoms of OHS, it is important to speak with a healthcare provider. Early diagnosis and treatment can help to manage symptoms and improve quality of life.

Mutations in the ATP7A gene are associated with two related genetic disorders: Menkes disease and Occipital Horn Syndrome (OHS), also known as X-linked cutis laxa. Both of these disorders are characterized by copper metabolism abnormalities due to dysfunctional ATP7A protein, which is involved in copper transport within the body.

Occipital Horn Syndrome (OHS) is a milder form of the ATP7A gene-related disorders compared to Menkes disease. It is characterized by connective tissue abnormalities, lax skin, and the presence of "occipital horns" (benign bony prominences) at the back of the skull. Individuals with OHS may also have mild developmental delays and other mild neurological symptoms.

Genetic testing for mutations in the ATP7A gene can help diagnose Occipital Horn Syndrome. This testing is typically performed using next-generation sequencing (NGS) technology, which enables the analysis of the DNA sequence of the gene to identify any genetic variations responsible for the disorder.

If you suspect that you or someone you know may have Occipital Horn Syndrome or if there are concerns about a genetic condition, it's important to consult with a healthcare professional, such as a medical geneticist or pediatrician. They can guide you through the diagnostic process, recommend appropriate genetic testing, and provide information about treatment options and management strategies.