Short Description

NGS genetic DNA test detecets for variant and mutation detection in PORCN gene for Focal dermal hypoplasia

PreTest Information

Clinical History of Patient who is going for PORCN Gene Focal dermal hypoplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PORCN Gene Focal dermal hypoplasia NGS Genetic DNA Test gene PORCN

Detail Description

PORCN Gene Focal Dermal Hypoplasia NGS Genetic DNA Test - Cost INR: 20,000, Symptoms, Diagnosis

Porcupine homolog (PORCN) gene is responsible for producing a protein that is essential for the development of several organs and tissues in the body. Mutations or changes in this gene can lead to a rare genetic disorder called Focal Dermal Hypoplasia (FDH), also known as Goltz syndrome. FDH affects multiple body systems and is characterized by skin abnormalities, skeletal defects, and other health problems.

Symptoms of FDH

The symptoms of FDH can vary widely from person to person and may range from mild to severe. Some of the common symptoms include:

• Skin abnormalities such as streaks or patches of thin, wrinkled, or absent skin
• Abnormalities of the hands and feet such as missing fingers or toes, webbed fingers or toes, or underdeveloped or absent nails
• Eye abnormalities such as cataracts, strabismus (crossed eyes), or other vision problems
• Skeletal abnormalities such as short stature, scoliosis (curvature of the spine), or other bone defects
• Developmental delays or intellectual disability
• Other health problems such as heart defects, kidney problems, or gastrointestinal issues

Diagnosis of FDH

FDH is a rare genetic disorder, and diagnosis can be challenging. A clinical evaluation by a geneticist or other healthcare provider is essential to determine if a person has FDH. Genetic testing is also available to confirm the diagnosis.

NGS Genetic DNA testing is one of the most accurate and reliable ways to diagnose FDH. This test analyzes the PORCN gene for mutations or changes that may be causing the disorder. The test is non-invasive and involves taking a sample of blood or saliva. The cost of the NGS Genetic DNA test for FDH in India is around INR 20,000.

Conclusion

FDH is a rare genetic disorder that can have a significant impact on a person's health and quality of life. Early diagnosis is essential to ensure appropriate medical management and support. NGS Genetic DNA testing is an accurate and reliable way to diagnose FDH and can help healthcare providers develop a personalized treatment plan for individuals with this condition.

If you suspect that you or a loved one may have FDH, consult with a geneticist or other healthcare provider to discuss your options for diagnosis and management.

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 PORCN Gene Focal dermal hypoplasia NGS Genetic DNA Test