Short Description

NGS genetic DNA test detecets for variant and mutation detection in GDF2 gene for Telangiectasia hereditary hemorrhagic type 5

PreTest Information

Clinical History of Patient who is going for GDF2 Gene Telangiectasia hereditary hemorrhagic type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GDF2 Gene Telangiectasia hereditary hemorrhagic type 5 NGS Genetic DNA Test gene GDF2

Detail Description

GDF2 Gene Telangiectasia Hereditary Hemorrhagic Type 5 NGS Genetic DNA Test

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease, is a genetic disorder that affects blood vessels and can cause recurrent nosebleeds, skin lesions, and gastrointestinal bleeding. HHT is caused by mutations in several genes, including the GDF2 gene, which is associated with HHT type 5.

The GDF2 gene encodes a protein called bone morphogenetic protein 9 (BMP9), which plays a key role in blood vessel development. Mutations in the GDF2 gene can disrupt BMP9 signaling, leading to the formation of abnormal blood vessels and the characteristic symptoms of HHT type 5.

Symptoms of HHT type 5

The symptoms of HHT type 5 can vary widely from person to person, even within the same family. Some people may have only mild symptoms, while others may experience severe bleeding and other complications. The most common symptoms of HHT type 5 include:

• Recurrent nosebleeds
• Multiple telangiectases (small, dilated blood vessels) on the skin or mucous membranes
• Gastrointestinal bleeding
• Arteriovenous malformations (AVMs) in the lungs, liver, brain, or other organs

Diagnosis of HHT type 5

HHT type 5 is diagnosed based on a combination of clinical features and genetic testing. A doctor may suspect HHT type 5 based on a patient's symptoms and family history. A physical examination may reveal telangiectases on the skin or mucous membranes, and imaging tests such as CT scans or MRIs may be used to detect AVMs in the organs.

Genetic testing can confirm a diagnosis of HHT type 5 by identifying mutations in the GDF2 gene. Next-generation sequencing (NGS) is a powerful tool for genetic testing that can analyze multiple genes simultaneously and detect even rare variants. NGS can be performed on a blood or saliva sample and typically takes several weeks to produce results.

Cost of NGS Genetic DNA Test

The cost of NGS genetic DNA testing for HHT type 5 can vary depending on the laboratory and the specific test ordered. At DNA Labs India, the cost of NGS genetic DNA testing for HHT type 5 is INR 20,000. This includes the cost of sample collection, DNA extraction, NGS analysis, and interpretation of results by a board-certified genetic counselor.

Conclusion

HHT type 5 is a rare genetic disorder that can cause a range of symptoms, including recurrent nosebleeds, skin lesions, and gastrointestinal bleeding. Genetic testing can confirm a diagnosis of HHT type 5 and help guide treatment and management options. NGS genetic DNA testing is a powerful tool for diagnosing HHT type 5 and other genetic disorders, and DNA Labs India offers affordable and reliable testing services for patients and healthcare providers.

If you or a loved one is experiencing symptoms of HHT type 5 or other genetic disorders, contact DNA Labs India to learn more about our testing options and services.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for GDF2 Gene Telangiectasia hereditary hemorrhagic type 5 NGS Genetic DNA Test