Short Description

NGS genetic DNA test detecets for variant and mutation detection in SPINK5 gene for Netherton syndrome

PreTest Information

Clinical History of Patient who is going for SPINK5 Gene Netherton syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SPINK5 Gene Netherton syndrome NGS Genetic DNA Test gene SPINK5

Detail Description

SPINK5 Gene and Netherton Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Netherton Syndrome is a rare genetic disorder caused by mutations in the SPINK5 gene. It is characterized by a range of symptoms that can affect the skin, hair, and immune system. The condition is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder.

Symptoms of Netherton Syndrome

The symptoms of Netherton Syndrome can vary widely from person to person, but some of the most common include:

• Severe skin itching (pruritus)
• Redness and inflammation of the skin (erythroderma)
• Scaly skin (ichthyosis)
• Brittle, easily broken hair (trichorrhexis invaginata)
• Increased susceptibility to infection
• Allergies and asthma

These symptoms can range from mild to severe and can have a significant impact on a person's quality of life. In some cases, Netherton Syndrome can be life-threatening, particularly if it affects the immune system.

Diagnosis of Netherton Syndrome

Netherton Syndrome is typically diagnosed through a combination of clinical examination and genetic testing. A doctor may perform a skin biopsy to examine the skin under a microscope and look for characteristic changes. Blood tests may also be performed to evaluate immune system function.

Genetic testing is the most definitive way to diagnose Netherton Syndrome. This typically involves sequencing the SPINK5 gene to look for mutations. Next-generation sequencing (NGS) is a type of genetic testing that can sequence multiple genes at once, making it a more efficient and cost-effective option than traditional Sanger sequencing.

NGS Genetic DNA Test Cost in India

The cost of an NGS genetic DNA test for Netherton Syndrome in India can vary depending on the provider. On average, the cost of the test is around INR 20,000. It is important to note that this cost may not include additional fees such as consultation fees, sample collection fees, or interpretation fees.

It is also worth noting that NGS testing can be a valuable tool for genetic testing beyond just Netherton Syndrome. Many labs offer panels that can sequence multiple genes associated with a range of conditions, making it a more comprehensive option for genetic testing.

Conclusion

Netherton Syndrome is a rare genetic disorder that can have a significant impact on a person's quality of life. Early diagnosis and genetic testing can help individuals and families better understand the condition and make informed decisions about treatment and management. NGS genetic DNA testing can be a cost-effective and efficient option for diagnosing Netherton Syndrome and other genetic conditions.

If you suspect that you or a loved one may have Netherton Syndrome, it is important to speak with a healthcare provider or genetic counselor to discuss testing options and potential treatment options.

For more information on genetic testing and Netherton Syndrome, contact DNA Labs India today.

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 SPINK5 Gene Netherton syndrome NGS Genetic DNA Test