Short Description

NGS genetic DNA test detecets for variant and mutation detection in ABCC6 gene for Pseudoxanthoma elasticum, forme fruste

PreTest Information

Clinical History of Patient who is going for ABCC6 Gene Pseudoxanthoma elasticum, forme fruste NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ABCC6 Gene Pseudoxanthoma elasticum, forme fruste NGS Genetic DNA Test gene ABCC6

Detail Description

ABCC6 Gene Pseudoxanthoma Elasticum: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder that affects the skin, eyes, and cardiovascular system. It is caused by mutations in the ABCC6 gene, which encodes a protein that is responsible for transporting minerals in the body. PXE can present in different forms, including the classic form and the forme fruste form, which is less severe. In this blog, we will discuss the ABCC6 gene, PXE, and the NGS genetic DNA test cost for diagnosis.

Symptoms of PXE

The symptoms of PXE can vary depending on the form of the disease. The classic form of PXE usually presents in childhood or adolescence and is characterized by yellowish papules on the skin, which can lead to laxity and sagging. These papules can also appear on the eyes, leading to vision problems. The cardiovascular system can also be affected, leading to complications such as hypertension and angina.

The forme fruste form of PXE is less severe and presents later in life. The skin symptoms are milder and may not be noticeable, but the eyes and cardiovascular system can still be affected.

Diagnosis of PXE

The diagnosis of PXE is usually based on clinical symptoms and family history. A skin biopsy can also be performed to confirm the diagnosis. Genetic testing can also be done to identify mutations in the ABCC6 gene. This is especially useful for detecting the forme fruste form of the disease, which may not present with obvious skin symptoms.

ABCC6 Gene and PXE

The ABCC6 gene is located on chromosome 16 and encodes a protein called ATP-binding cassette transporter 6 (ABCC6). This protein is responsible for transporting minerals such as pyrophosphate and ATP out of the cells. Mutations in the ABCC6 gene can lead to the accumulation of these minerals in the body, leading to the symptoms of PXE.

There are over 300 mutations that have been identified in the ABCC6 gene, and these can vary depending on the ethnic background of the individual. Genetic testing can help identify these mutations and provide a diagnosis for PXE.

NGS Genetic DNA Test Cost for PXE Diagnosis

The NGS genetic DNA test cost for PXE diagnosis can vary depending on the laboratory and the location. In India, the cost for an NGS genetic DNA test for PXE diagnosis is around INR 20,000. This test can identify mutations in the ABCC6 gene and provide a diagnosis for PXE. It is a non-invasive test that requires only a blood sample.

Conclusion

Pseudoxanthoma elasticum is a rare genetic disorder that can affect the skin, eyes, and cardiovascular system. It is caused by mutations in the ABCC6 gene, which encodes a protein responsible for transporting minerals in the body. The diagnosis of PXE can be made based on clinical symptoms, family history, and genetic testing. The NGS genetic DNA test cost for PXE diagnosis in India is around INR 20,000. Early diagnosis and management of PXE can help prevent complications and improve quality of life.

At DNA Labs India, we offer comprehensive genetic testing services, including NGS genetic DNA tests for PXE diagnosis. Contact us today to learn more about our services and how we can help you.