Short Description

NGS genetic DNA test detecets for variant and mutation detection in LRRC6 gene for Primary ciliary dyskinesia type 19

PreTest Information

Clinical History of Patient who is going for EYA1 Gene Branchiootic syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EYA1 Gene Branchiootic syndrome type 1 NGS Genetic DNA Test gene EYA17

Detail Description

LRRC6 Gene Primary Ciliary Dyskinesia Type 19 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by abnormal ciliary function. The cilia are tiny hair-like structures that line the respiratory tract, sinuses, and ears. They play a crucial role in removing mucus and other debris from these areas. In PCD, the cilia are defective, leading to chronic respiratory infections, sinusitis, and hearing loss. PCD is caused by mutations in various genes, including the LRRC6 gene.

LRRC6 Gene and PCD Type 19

The LRRC6 gene is responsible for producing a protein called leucine-rich repeat-containing protein 6. This protein is essential for the proper formation and function of cilia. Mutations in the LRRC6 gene can lead to PCD type 19, which is characterized by situs inversus totalis (mirror-image reversal of the internal organs) and chronic respiratory infections. PCD type 19 is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent.

NGS Genetic DNA Test for LRRC6 Gene PCD Type 19

The LRRC6 gene PCD type 19 NGS genetic DNA test is a diagnostic tool that can confirm the presence of LRRC6 gene mutations. The test uses next-generation sequencing (NGS) technology to analyze the DNA sequence of the LRRC6 gene. The test is highly accurate and can detect even small mutations in the gene. The test is performed on a blood sample, and the results are usually available within a few weeks.

Symptoms of PCD Type 19

The symptoms of PCD type 19 can vary from person to person, but they typically include:

• Chronic respiratory infections
• Sinusitis
• Cough
• Wheezing
• Shortness of breath
• Frequent ear infections
• Hearing loss
• Situs inversus totalis

Diagnosis of PCD Type 19

Diagnosing PCD type 19 can be challenging because the symptoms are similar to other respiratory conditions. A diagnosis is usually based on a combination of clinical evaluation, imaging studies (such as CT scans), and genetic testing. The LRRC6 gene PCD type 19 NGS genetic DNA test can confirm the presence of LRRC6 gene mutations and help with the diagnosis.

Cost of LRRC6 Gene PCD Type 19 NGS Genetic DNA Test

The cost of the LRRC6 gene PCD type 19 NGS genetic DNA test in India is approximately INR 20000. The cost may vary depending on the laboratory and location.

Conclusion

PCD type 19 is a rare genetic disorder caused by mutations in the LRRC6 gene. The LRRC6 gene PCD type 19 NGS genetic DNA test is a highly accurate diagnostic tool that can confirm the presence of LRRC6 gene mutations. The test can help with the diagnosis of PCD type 19, which is crucial for proper treatment and management of the condition. The cost of the test is approximately INR 20000 in India.

At DNA Labs India, we offer a wide range of genetic testing services, including the LRRC6 gene PCD type 19 NGS genetic DNA test. Contact us to learn more about our services and how we can help you.