Short Description

NGS genetic DNA test detecets for variant and mutation detection in MED12 gene for Lujan-Fryns syndrome

PreTest Information

Clinical History of Patient who is going for MED12 Gene Lujan-Fryns syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MED12 Gene Lujan-Fryns syndrome NGS Genetic DNA Test gene MED12

Detail Description

MED12 Gene Lujan-Fryns syndrome NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Lujan-Fryns syndrome, also known as X-linked intellectual disability type 20 (XLID20), is a genetic disorder that affects the development of the brain and causes intellectual disability. The syndrome is caused by mutations in the MED12 gene located on the X chromosome. The MED12 gene provides instructions for making a protein that plays a crucial role in the development of the brain and other organs.

NGS (Next-generation sequencing) is a technique used to determine the DNA sequence of an individual's genome. It is a high-throughput sequencing method that allows the simultaneous analysis of millions of DNA fragments. NGS is an effective tool for the diagnosis of genetic disorders, including Lujan-Fryns syndrome.

Symptoms of Lujan-Fryns syndrome

The symptoms of Lujan-Fryns syndrome can vary widely from person to person. The most common symptoms include:

• Intellectual disability
• Delayed speech and language development
• Behavioral problems
• Autism spectrum disorder
• Facial abnormalities
• Low muscle tone
• Seizures

Diagnosis of Lujan-Fryns syndrome

The diagnosis of Lujan-Fryns syndrome is based on a combination of clinical features and genetic testing. A thorough physical examination and medical history review can help identify characteristic facial features, developmental delays, and behavioral problems. Genetic testing is the most reliable way to confirm a diagnosis of Lujan-Fryns syndrome. NGS is a highly accurate and sensitive method for identifying mutations in the MED12 gene.

NGS Genetic DNA Test cost INR:20000

The cost of the NGS Genetic DNA Test for Lujan-Fryns syndrome in India is approximately INR 20000. The test can be performed by DNA Labs India, a leading provider of genetic testing services in India. DNA Labs India uses state-of-the-art NGS technology to provide accurate and reliable results. The test requires a blood sample from the patient, which can be collected at any DNA Labs India location.

Conclusion

Lujan-Fryns syndrome is a rare genetic disorder that can cause significant developmental delays and intellectual disability. Genetic testing, particularly NGS, can help diagnose the condition and provide important information for treatment and management. DNA Labs India offers NGS Genetic DNA testing for Lujan-Fryns syndrome at an affordable cost of INR 20000. If you suspect that you or a loved one may have Lujan-Fryns syndrome, contact DNA Labs India to schedule an appointment for testing.

Remember, early diagnosis and intervention can make a significant difference in the long-term outcomes for individuals with Lujan-Fryns syndrome.

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 MED12 Gene Lujan-Fryns syndrome NGS Genetic DNA Test