Short Description

NGS genetic DNA test detecets for variant and mutation detection in NSDHL gene for CHILD syndrome

PreTest Information

Clinical History of Patient who is going for NSDHL Gene CHILD syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NSDHL Gene CHILD syndrome

Detail Description

NSDHL Gene and CHILD Syndrome: Understanding Symptoms, Diagnosis, and NGS Genetic DNA Test Cost at DNA Labs India

CHILD syndrome is a rare genetic disorder that affects the skin, limbs, and other organs. It is caused by mutations in the NSDHL gene, which is responsible for producing an enzyme that plays a critical role in cholesterol synthesis. This disorder is typically diagnosed in infancy or early childhood and can lead to a range of symptoms, including limb malformations, skin abnormalities, and intellectual disability.

Symptoms of CHILD Syndrome

The symptoms of CHILD syndrome can vary widely depending on the severity of the disorder. Some common symptoms include:

• Unilateral (one-sided) limb malformations, such as missing fingers or toes, underdeveloped limbs, or fused digits
• Unilateral skin lesions, including patches of thickened, scaly, or discolored skin
• Intellectual disability or developmental delays
• Other organ abnormalities, such as cardiac defects or kidney malformations

Diagnosing CHILD Syndrome

Diagnosing CHILD syndrome typically involves a combination of physical exams, imaging tests, and genetic testing. Your doctor may perform a physical exam to assess your child's skin, limbs, and other organs. Imaging tests, such as X-rays or MRIs, may be used to evaluate any malformations or abnormalities. Finally, genetic testing can confirm a diagnosis of CHILD syndrome by identifying mutations in the NSDHL gene.

NGS Genetic DNA Test Cost at DNA Labs India

DNA Labs India is a leading provider of genetic testing services, including NGS genetic DNA testing for CHILD syndrome. NGS testing is a powerful tool for identifying genetic mutations and can help diagnose a range of genetic disorders, including CHILD syndrome. The cost of NGS genetic DNA testing at DNA Labs India is INR 20,000. This includes the cost of sample collection, laboratory testing, and a detailed report of your child's genetic results.

Conclusion

CHILD syndrome is a rare genetic disorder that can cause a range of symptoms, including limb malformations, skin abnormalities, and intellectual disability. If you suspect that your child may have CHILD syndrome, it is important to seek medical attention as soon as possible. DNA Labs India offers NGS genetic DNA testing for CHILD syndrome at an affordable cost of INR 20,000. Contact us today to learn more about our genetic testing services.

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 NSDHL Gene CHILD syndrome NGS Genetic DNA Test