Short Description

NGS genetic DNA test detecets for variant and mutation detection in SPAG1 gene for Primary ciliary dyskinesia type 28

PreTest Information

Clinical History of Patient who is going for SLC52A3 Gene Brown-Vialetto-Van Laere syndrome 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC52A3 Gene Brown-Vialetto-Van Laere syndrome 1 NGS Genetic DNA Test gene SLC52A20

Detail Description

SPAG1 Gene Primary Ciliary Dyskinesia Type 28 NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by defects in the motile cilia lining the respiratory tract, reproductive tract, and other organs. It affects approximately 1 in 15,000 individuals worldwide and can cause chronic respiratory infections, infertility, and other complications. SPAG1 gene mutations are one of the causes of PCD, specifically type 28.

Symptoms of PCD Type 28

The symptoms of PCD type 28 can vary from person to person, but typically include:

• Chronic cough
• Recurrent respiratory infections, such as pneumonia and bronchitis
• Shortness of breath
• Nasal congestion
• Chronic sinusitis
• Infertility
• Hearing loss

These symptoms are caused by the impaired function of the motile cilia, which are responsible for clearing mucus and other debris from the respiratory tract and moving sperm in the reproductive tract.

Diagnosis of PCD Type 28

Diagnosis of PCD type 28 typically involves a combination of clinical evaluation, imaging tests, and genetic testing. A doctor may perform a physical exam and order imaging tests such as a chest X-ray or CT scan to evaluate the respiratory tract. They may also perform a nasal or bronchial biopsy to evaluate the cilia under a microscope.

Genetic testing can confirm a diagnosis of PCD type 28 by identifying mutations in the SPAG1 gene. Next-generation sequencing (NGS) is a powerful tool for genetic testing that can analyze multiple genes simultaneously, making it a cost-effective and efficient way to diagnose PCD type 28.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for PCD type 28 varies depending on the testing facility and location. In India, the cost of an NGS genetic DNA test for PCD type 28 typically ranges from INR 15,000 to INR 25,000, with an average cost of INR 20,000.

Conclusion

PCD type 28 is a rare genetic disorder caused by mutations in the SPAG1 gene, which can lead to impaired function of the motile cilia and a range of respiratory and reproductive complications. Diagnosis typically involves a combination of clinical evaluation, imaging tests, and genetic testing using NGS technology. The cost of an NGS genetic DNA test for PCD type 28 in India is typically INR 20,000, making it a cost-effective and efficient way to confirm a diagnosis and provide appropriate treatment.

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 SPAG1 Gene Primary ciliary dyskinesia type 28 NGS Genetic DNA Test