Short Description

NGS genetic DNA test detecets for variant and mutation detection in PSMB8 gene for Autoinflammation, lipodystroph and dermatosis syndrome

PreTest Information

Clinical History of Patient who is going for PSMB8 Gene Autoinflammation, lipodystroph and dermatosis syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PSMB8 Gene Autoinflammation, lipodystroph and dermatosis syndrome NGS Genetic DNA Test gene PSMB8

Detail Description

PSMB8 Gene Autoinflammation, Lipodystrophy, and Dermatosis Syndrome NGS Genetic DNA Test

PSMB8 gene autoinflammation, lipodystrophy, and dermatosis syndrome (PRAAS) is a rare genetic disorder that affects the immune system and causes inflammation, skin disorders, and abnormal fat distribution. It is caused by mutations in the PSMB8 gene, which provides instructions for making a protein called proteasome subunit beta type-8. This protein is part of a complex called the proteasome, which breaks down and recycles proteins in the cell.

Symptoms of PRAAS can vary widely, but typically include recurrent fever, skin rashes, joint pain, muscle weakness, and abnormal fat distribution. Some patients may also develop lipodystrophy, which is a condition characterized by loss of fat tissue in some areas and excess fat in others.

Diagnosis of PRAAS can be challenging because the symptoms are similar to those of other autoimmune disorders. However, a genetic test called next-generation sequencing (NGS) can be used to identify mutations in the PSMB8 gene. This test involves sequencing the DNA of the patient and comparing it to a reference genome to identify variations that may be causing the disorder.

DNA Labs India offers a PRAAS NGS genetic DNA test for INR 20,000. This test is performed using state-of-the-art technology and can identify mutations in the PSMB8 gene with high accuracy. The results of this test can help doctors make an accurate diagnosis and develop a treatment plan that is tailored to the patient's specific needs.

Benefits of the PSMB8 Gene Autoinflammation, Lipodystrophy, and Dermatosis Syndrome NGS Genetic DNA Test

The PSMB8 Gene Autoinflammation, Lipodystrophy, and Dermatosis Syndrome NGS Genetic DNA Test offered by DNA Labs India has several benefits:

• Accurate diagnosis: The test can identify mutations in the PSMB8 gene with high accuracy, which can help doctors make an accurate diagnosis.
• Tailored treatment plan: Once a diagnosis is made, doctors can develop a treatment plan that is tailored to the patient's specific needs.
• Early intervention: Early intervention can help prevent complications and improve the patient's quality of life.
• Genetic counseling: Patients and their families can receive genetic counseling to better understand the disorder and the risk of passing it on to future generations.

Conclusion

PSMB8 gene autoinflammation, lipodystrophy, and dermatosis syndrome is a rare genetic disorder that can cause a range of symptoms, including recurrent fever, skin rashes, joint pain, muscle weakness, and abnormal fat distribution. Diagnosis can be challenging, but a PRAAS NGS genetic DNA test can identify mutations in the PSMB8 gene with high accuracy. The test offered by DNA Labs India is affordable and can help doctors make an accurate diagnosis and develop a treatment plan that is tailored to the patient's specific needs.

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 PSMB8 Gene Autoinflammation, lipodystroph and dermatosis syndrome NGS Genetic DNA Test