Short Description

NGS genetic DNA test detecets for variant and mutation detection in ABCC6 gene for Arterial calcification type 2, generalized, infantile

PreTest Information

Clinical History of Patient who is going for ABCC6 Gene Arterial calcification type 2, generalized, infantile NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ABCC6 Gene Arterial calcification type 2, generalized, infantile NGS Genetic DNA Test gene ABCC6

Detail Description

ABCC6 Gene Arterial Calcification Type 2, Generalized, Infantile NGS Genetic DNA Test

Arterial calcification type 2, generalized, infantile (ACG2) is a rare genetic disorder that is caused by mutations in the ABCC6 gene. The ABCC6 gene provides instructions for making a protein that is involved in the transport of molecules out of cells. In people with ACG2, the ABCC6 protein is not produced correctly, leading to the accumulation of calcium in the walls of arteries and other tissues.

The symptoms of ACG2 can vary widely, but typically include hardening of the arteries, which can lead to heart disease, stroke, and other complications. Other symptoms may include joint pain, skin lesions, and vision problems.

Diagnosis of ACG2 is typically done through genetic testing, which can identify mutations in the ABCC6 gene. This type of testing is known as NGS (next-generation sequencing) genetic DNA testing.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for ACG2 can vary, but typically ranges from INR 20,000 to INR 30,000. This cost may be covered by insurance in some cases, but it is important to check with your provider to determine your coverage.

Symptoms of ACG2

The symptoms of ACG2 can vary widely, but typically include:

• Hardening of the arteries
• Heart disease
• Stroke
• Joint pain
• Skin lesions
• Vision problems

Diagnosis of ACG2

Diagnosis of ACG2 is typically done through genetic testing, which can identify mutations in the ABCC6 gene. This type of testing is known as NGS (next-generation sequencing) genetic DNA testing. A doctor or genetic counselor can order this test if they suspect that a person has ACG2 based on their symptoms and medical history.

If you or a loved one is experiencing symptoms of ACG2, it is important to talk to a doctor or genetic counselor about the possibility of genetic testing. Early diagnosis and treatment can help to manage symptoms and improve outcomes for people with this rare genetic disorder.

Conclusion

Arterial calcification type 2, generalized, infantile (ACG2) is a rare genetic disorder that can cause a range of symptoms, including hardening of the arteries, heart disease, stroke, joint pain, skin lesions, and vision problems. Diagnosis of ACG2 is typically done through genetic testing, which can identify mutations in the ABCC6 gene. If you or a loved one is experiencing symptoms of ACG2, it is important to talk to a doctor or genetic counselor about the possibility of genetic testing. Early diagnosis and treatment can help to manage symptoms and improve outcomes for people with this rare genetic disorder.

For more information on genetic testing and rare genetic disorders, visit DNA Labs India.