Short Description

NGS genetic DNA test detecets for variant and mutation detection in PDGFB gene for Basal ganglia calcification type 5, idiopathic

PreTest Information

Clinical History of Patient who is going for PDGFB Gene Basal ganglia calcification type 5, idiopathic NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PDGFB Gene Basal ganglia calcification type 5, idiopathic NGS Genetic DNA Test gene PDGFB

Detail Description

PDGFB Gene Basal Ganglia Calcification Type 5: Symptoms, Diagnosis, and Genetic Testing

Basal ganglia calcification is a rare neurological disorder that causes calcium deposits to accumulate in the basal ganglia of the brain. This can lead to a range of symptoms, including movement disorders, cognitive impairment, and psychiatric symptoms. Basal ganglia calcification type 5 (IBGC5) is a specific subtype of the disorder that is caused by mutations in the PDGFB gene.

Symptoms of Basal Ganglia Calcification Type 5

The symptoms of IBGC5 can vary widely between individuals, but may include:

• Movement disorders, such as dystonia or Parkinsonism
• Cognitive impairment, including memory loss and difficulty with language
• Psychiatric symptoms, such as depression, anxiety, and psychosis
• Seizures
• Headaches
• Visual disturbances
• Stroke-like episodes

These symptoms can appear at any age, but typically begin in early adulthood.

Diagnosis of Basal Ganglia Calcification Type 5

Diagnosing IBGC5 can be challenging, as the symptoms can be similar to those of other neurological disorders. A diagnosis may be made based on a combination of clinical symptoms, brain imaging studies, and genetic testing.

Brain imaging studies, such as CT or MRI scans, can show the characteristic calcium deposits in the basal ganglia. Genetic testing can confirm the presence of mutations in the PDGFB gene.

Genetic Testing for Basal Ganglia Calcification Type 5

Genetic testing can help to confirm a diagnosis of IBGC5 and identify individuals who may be at risk for developing the disorder. The test is typically performed using next-generation sequencing (NGS) technology, which can sequence the entire PDGFB gene and identify any mutations that may be present.

The cost of genetic testing for IBGC5 can vary depending on the provider and the specific testing method used. At DNA Labs India, we offer NGS genetic testing for PDGFB gene basal ganglia calcification type 5 at a cost of INR 20,000.

Conclusion

Basal ganglia calcification type 5 is a rare neurological disorder that can cause a range of symptoms, including movement disorders, cognitive impairment, and psychiatric symptoms. Genetic testing can help to confirm a diagnosis and identify individuals who may be at risk for developing the disorder. If you are experiencing symptoms of IBGC5 or have a family history of the disorder, talk to your healthcare provider about genetic testing options.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic testing for PDGFB gene basal ganglia calcification type 5. Contact us today to learn more.