Short Description

NGS genetic DNA test detecets for variant and mutation detection in FOXF1 gene for Alveolar capillary dysplasia with misalignment of pulmonary veins

PreTest Information

Clinical History of Patient who is going for FOXF1 Gene Alveolar capillary dysplasia with misalignment of pulmonary veins NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FOXF1 Gene Alveolar capillary dysplasia with misalignment of pulmonary veins NGS Genetic DNA Test gene FOXF1

Detail Description

FOXF1 Gene Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins NGS Genetic DNA Test

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lung disorder that affects newborns and infants. This disorder is characterized by abnormal development of the lungs, which leads to breathing difficulties and respiratory failure. ACDMPV is caused by mutations in the FOXF1 gene, which plays a crucial role in lung development.

The FOXF1 gene provides instructions for making a protein that is essential for the proper development of the lungs. Mutations in this gene can alter the structure and function of the protein, leading to abnormal lung development. ACDMPV is an autosomal dominant disorder, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition.

Symptoms of ACDMPV

The symptoms of ACDMPV usually appear at birth or within the first few weeks of life. Infants with this disorder may have:

• Rapid breathing or difficulty breathing
• Cyanosis (bluish discoloration of the skin and mucous membranes)
• Low oxygen levels in the blood
• Poor feeding and weight gain
• Frequent infections

ACDMPV can be life-threatening, and affected infants often require mechanical ventilation or extracorporeal membrane oxygenation (ECMO) to support their breathing.

Diagnosis of ACDMPV

The diagnosis of ACDMPV is based on clinical features, imaging studies, and genetic testing. Imaging studies such as chest X-rays, CT scans, and echocardiography can reveal the characteristic abnormalities in lung development and misalignment of pulmonary veins. Genetic testing can confirm the presence of mutations in the FOXF1 gene.

NGS Genetic DNA Test for ACDMPV

The next-generation sequencing (NGS) genetic DNA test is a powerful tool for detecting mutations in the FOXF1 gene. This test uses advanced sequencing technology to analyze the entire coding region of the gene, which increases the sensitivity and specificity of the test. The NGS genetic DNA test can identify all types of mutations, including point mutations, deletions, and duplications.

Cost of NGS Genetic DNA Test for ACDMPV

The cost of the NGS genetic DNA test for ACDMPV in India is INR 20,000. This test is available at DNA Labs India, a leading provider of genetic testing services in the country. DNA Labs India uses state-of-the-art equipment and techniques to ensure accurate and reliable results.

Conclusion

ACDMPV is a rare but serious lung disorder that can be caused by mutations in the FOXF1 gene. The symptoms of this condition can be life-threatening, and early diagnosis is crucial for the management of affected infants. The NGS genetic DNA test is a powerful tool for detecting mutations in the FOXF1 gene, and it is available at DNA Labs India at an affordable cost.

If you suspect that your child may have ACDMPV or if you have a family history of this condition, consult a healthcare professional to discuss genetic testing options.

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 FOXF1 Gene Alveolar capillary dysplasia with misalignment of pulmonary veins NGS Genetic DNA Test