Short Description

NGS genetic DNA test detecets for variant and mutation detection in PHF6 gene for Borjeson-Forssman-Lehmann syndrome

PreTest Information

Clinical History of Patient who is going for PHF6 Gene Borjeson-Forssman-Lehmann syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PHF6 Gene Borjeson-Forssman-Lehmann syndrome

Detail Description

PHF6 Gene Borjeson-Forssman-Lehmann Syndrome NGS Genetic DNA Test Cost - DNA Labs India

Borjeson-Forssman-Lehmann syndrome is a rare genetic disorder that affects many parts of the body. It is caused by mutations in the PHF6 gene, which provides instructions for making a protein that is involved in the development and function of nerve cells.

If you suspect that you or your child may have Borjeson-Forssman-Lehmann syndrome, DNA Labs India offers a genetic DNA test that can help diagnose the condition. Our NGS (Next-Generation Sequencing) test analyzes the entire PHF6 gene to identify any mutations that may be present.

PHF6 Gene Borjeson-Forssman-Lehmann Syndrome NGS Genetic DNA Test Cost

The cost of the PHF6 Gene Borjeson-Forssman-Lehmann Syndrome NGS Genetic DNA Test at DNA Labs India is INR 20000.

Symptoms of Borjeson-Forssman-Lehmann Syndrome

The symptoms of Borjeson-Forssman-Lehmann syndrome can vary widely from person to person, but they typically include:

• Intellectual disability
• Delayed development
• Abnormal facial features, such as a large head, low hairline, and wide-set eyes
• Seizures
• Behavioral problems
• Short stature
• Obesity
• Abnormalities in the hands and feet
• Hypogonadism (reduced hormone production by the sex glands)

Diagnosis of Borjeson-Forssman-Lehmann Syndrome

The diagnosis of Borjeson-Forssman-Lehmann syndrome is usually based on clinical features, such as intellectual disability, delayed development, and abnormal facial features. However, a genetic DNA test, such as the NGS test offered by DNA Labs India, can confirm the diagnosis by identifying mutations in the PHF6 gene.

If you suspect that you or your child may have Borjeson-Forssman-Lehmann syndrome, we encourage you to speak with your doctor about genetic testing. Contact DNA Labs India to learn more about our PHF6 Gene Borjeson-Forssman-Lehmann Syndrome NGS Genetic DNA Test and to schedule an appointment.

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 PHF6 Gene Borjeson-Forssman-Lehmann syndrome NGS Genetic DNA Test