Short Description

NGS genetic DNA test detecets for variant and mutation detection in SCNN1A gene for Pseudohypoaldosteronism, type 1, autosomal recessive

PreTest Information

Clinical History of Patient who is going for SCNN1A Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SCNN1A Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic DNA Test gene SCNN1A

Detail Description

Understanding SCNN1A Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic DNA Test

SCNN1A gene Pseudohypoaldosteronism, type 1, autosomal recessive (PHA1B) is a rare genetic disorder characterized by renal salt wasting and dehydration. It is caused by mutations in the SCNN1A gene that encodes for a subunit of the epithelial sodium channel (ENaC). This disorder is inherited in an autosomal recessive manner, meaning an affected individual has two copies of the mutated gene – one from each parent.

Symptoms of SCNN1A Gene Pseudohypoaldosteronism, type 1, autosomal recessive

PHAI1B is diagnosed in infancy or early childhood, typically within the first few months of life. Symptoms may include:

• Frequent episodes of dehydration
• Inability to retain salt
• Failure to thrive
• Low blood pressure
• High potassium levels
• Metabolic acidosis
• Electrolyte imbalances

Diagnosis of SCNN1A Gene Pseudohypoaldosteronism, type 1, autosomal recessive

A genetic test is required to diagnose PHAI1B. The test involves sequencing the SCNN1A gene to identify any mutations that may be present. The test can be performed using Next-Generation Sequencing (NGS) technology, which is a high-throughput method of sequencing that can analyze multiple genes simultaneously. NGS testing is faster and more cost-effective than traditional Sanger sequencing methods.

NGS Genetic DNA Test cost and process

The cost of an NGS genetic DNA test for PHAI1B at DNA Labs India is INR 20,000. The test can be ordered online from the DNA Labs India website. The process involves:

1. Ordering the test online
2. Collecting a DNA sample – this can be done using a cheek swab or a blood sample
3. Sending the sample to the DNA Labs India laboratory for analysis
4. Receiving the test results within 2-3 weeks

Conclusion

SCNN1A Gene Pseudohypoaldosteronism, type 1, autosomal recessive is a rare genetic disorder that can have serious health consequences if left untreated. Early diagnosis is essential for effective management of the condition. NGS genetic DNA testing is a fast and cost-effective way to diagnose PHAI1B and can be ordered online from DNA Labs India.

If you suspect that you or your child may have PHAI1B, talk to your doctor about genetic testing. Early diagnosis and treatment can improve outcomes and quality of life for individuals with this condition.

What is SCNN1A Gene Pseudohypoaldosteronism, type 1, autosomal recessive?

SCNN1A gene Pseudohypoaldosteronism, type 1, autosomal recessive is a rare genetic disorder that affects the ability of the kidneys to retain salt, leading to frequent episodes of dehydration and other health complications. It is caused by mutations in the SCNN1A gene, which encodes for a subunit of the epithelial sodium channel (ENaC). This disorder is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for a child to be affected.

What are the symptoms of SCNN1A Gene Pseudohypoaldosteronism, type 1, autosomal recessive?

PHAI1B is typically diagnosed in infancy or early childhood, and symptoms may include frequent episodes of dehydration, inability to retain salt, failure to thrive, low blood pressure, high potassium levels, metabolic acidosis, and electrolyte imbalances.

How is SCNN1A Gene Pseudohypoaldosteronism, type 1, autosomal recessive diagnosed?

A genetic test is required to diagnose PHAI1B. Next-Generation Sequencing (NGS) technology is used to sequence the SCNN1A gene and identify any mutations that may be present. NGS testing is faster and more cost-effective than traditional Sanger sequencing methods.

What is the cost and process of NGS Genetic DNA Test for SCNN1A Gene Pseudohypoaldosteronism, type 1, autosomal recessive?

The cost of an NGS genetic DNA test for PHAI1B at DNA Labs India is INR 20,000. The test can be ordered online from the DNA Labs India website, and the process involves collecting a DNA sample (cheek swab or blood sample) and sending it to the laboratory for analysis. The test results are usually available within 2-3 weeks.

Why is early diagnosis important for SCNN1A Gene Pseudohypoaldosteronism, type 1, autosomal recessive?

Early diagnosis is essential for effective management of PHAI1B. If left untreated, the disorder can lead to serious health complications and even death. Genetic testing can identify individuals who are at risk for the disorder, allowing for early intervention and improved outcomes.

Conclusion

SCNN1A Gene Pseudohypoaldosteronism, type 1, autosomal recessive is a rare genetic disorder that can have serious health consequences if left untreated. Early diagnosis through NGS genetic DNA testing is essential for effective management of the condition. At DNA Labs India, individuals can order the test online and receive results within 2-3 weeks. If you suspect that you or your child may have PHAI1B, talk to your doctor about genetic testing.

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 SCNN1A Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic DNA Test