Short Description

NGS genetic DNA test detecets for variant and mutation detection in ADAM17 gene for Inflammatory skin and bowel disease, neonatal, type 1

PreTest Information

Clinical History of Patient who is going for ADAM17 Gene Inflammatory skin and bowel disease, neonatal, type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ADAM17 Gene Inflammatory skin and bowel disease, neonatal, type 1 NGS Genetic DNA Test gene ADAM17

Detail Description

ADAM17 Gene Inflammatory Skin and Bowel Disease

• About ADAM17 Gene
• Inflammatory Skin and Bowel Disease
• Neonatal, Type 1 NGS Genetic DNA Test
• Symptoms and Diagnosis
• DNA Test Cost

About ADAM17 Gene

ADAM17 gene, also known as TNF-alpha converting enzyme (TACE), is a protein-coding gene that plays a crucial role in the regulation of inflammation and cell signaling. It is responsible for cleaving several cell-surface proteins, including tumor necrosis factor-alpha (TNF-alpha), epidermal growth factor receptor (EGFR), and interleukin-6 receptor (IL-6R).

ADAM17 gene is located on chromosome 2 and mutations in this gene have been associated with various diseases, including inflammatory skin and bowel disease.

Inflammatory Skin and Bowel Disease

Inflammatory skin and bowel disease are a group of disorders characterized by chronic inflammation in the skin and/or bowel. These diseases can be caused by various factors, including genetics, environmental factors, and immune dysfunction.

Recent studies have shown that mutations in the ADAM17 gene can lead to inflammatory skin and bowel disease, such as psoriasis, inflammatory bowel disease (IBD), and hidradenitis suppurativa (HS).

Neonatal, Type 1 NGS Genetic DNA Test

Neonatal, type 1 NGS genetic DNA test is a genetic test that can detect mutations in the ADAM17 gene. This test uses next-generation sequencing (NGS) technology to analyze the entire coding region of the ADAM17 gene.

The neonatal, type 1 NGS genetic DNA test can help diagnose inflammatory skin and bowel disease in newborns and infants, and can also help identify carriers of ADAM17 gene mutations.

Symptoms and Diagnosis

Symptoms of inflammatory skin and bowel disease can vary depending on the specific disease. Some common symptoms include:

• Red, itchy, scaly skin patches (psoriasis)
• Abdominal pain, diarrhea, and weight loss (IBD)
• Painful, pus-filled lumps under the skin (HS)

Diagnosis of inflammatory skin and bowel disease usually involves a combination of physical examination, medical history, and laboratory tests, including genetic testing.

DNA Test Cost

The cost of neonatal, type 1 NGS genetic DNA test for ADAM17 gene mutations is INR 20000. DNA Labs India provides reliable and affordable genetic testing services with fast turnaround time and accurate results.