Short Description

NGS genetic DNA test detecets for variant and mutation detection in ACVRL1 gene for Telangiectasia, hereditary hemorrhagic, type 2

PreTest Information

Clinical History of Patient who is going for ACVRL1 Gene Telangiectasia, hereditary hemorrhagic, type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ACVRL1 Gene Telangiectasia, hereditary hemorrhagic, type 2 NGS Genetic DNA Test gene ACVRL1

Detail Description

ACVRL1 Gene Telangiectasia, Hereditary Hemorrhagic, Type 2 NGS Genetic DNA Test

ACVRL1 Gene Telangiectasia, Hereditary Hemorrhagic, Type 2 is a rare genetic disorder that affects blood vessels. It is caused by mutations in the ACVRL1 gene, which provides instructions for making a protein called activin receptor-like kinase 1. This protein is involved in the development and maintenance of blood vessels.

Symptoms

The symptoms of ACVRL1 Gene Telangiectasia, Hereditary Hemorrhagic, Type 2 can vary widely from person to person. Some people may have only mild symptoms, while others may experience more severe symptoms. The most common symptoms of this condition include:

• Recurrent nosebleeds
• Bleeding in the gastrointestinal tract
• Bleeding in the urinary tract
• Bleeding in the lungs
• Small, red spots on the skin
• Enlarged blood vessels in the skin

Diagnosis

ACVRL1 Gene Telangiectasia, Hereditary Hemorrhagic, Type 2 is diagnosed through a combination of medical history, physical examination, and genetic testing. The genetic test, known as NGS Genetic DNA Test, involves analyzing a sample of blood or saliva to look for mutations in the ACVRL1 gene.

Cost

The cost of NGS Genetic DNA Test for ACVRL1 Gene Telangiectasia, Hereditary Hemorrhagic, Type 2 in India is approximately INR 20,000.

Conclusion

If you or a loved one is experiencing symptoms of ACVRL1 Gene Telangiectasia, Hereditary Hemorrhagic, Type 2, it is important to seek medical attention. A genetic test can help confirm the diagnosis and provide information about the best course of treatment. DNA Labs India offers NGS Genetic DNA Test for ACVRL1 Gene Telangiectasia, Hereditary Hemorrhagic, Type 2 at an affordable cost. Contact us today to learn more.

SEO Keywords

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The ACVRL1 gene is associated with a genetic disorder known as Hereditary Hemorrhagic Telangiectasia (HHT), also called Osler-Weber-Rendu syndrome. HHT is characterized by the development of abnormal blood vessels (telangiectasias) that are prone to bleeding. These blood vessels can appear on the skin's surface or in various organs, such as the nose, lungs, liver, and digestive tract.

The NGS (Next-Generation Sequencing) Genetic DNA Test for the ACVRL1 gene is a molecular diagnostic test that aims to identify mutations or genetic changes within the ACVRL1 gene that are associated with HHT type 2. This test can help confirm the diagnosis of this specific form of HHT and provide insight into the genetic basis of the condition.

Symptoms of HHT can include nosebleeds, skin telangiectasias, and more severe complications like internal bleeding in organs. The severity of symptoms can vary widely among affected individuals. Genetic testing can aid in confirming the diagnosis, providing information about the inheritance pattern, and guiding medical management.

If you suspect that you or someone you know might have Hereditary Hemorrhagic Telangiectasia (HHT) or are seeking more information about the ACVRL1 gene NGS Genetic DNA Test, it's important to consult with a medical geneticist, genetic counselor, or a healthcare professional specializing in genetic disorders. They can guide you through the testing process, provide information about the condition, and offer guidance for managing the diagnosis and associated health concerns.