Short Description

NGS genetic DNA test detecets for variant and mutation detection in LRIG2 gene for Urofacial syndrome

PreTest Information

Clinical History of Patient who is going for LRIG2 Gene Urofacial syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LRIG2 Gene Urofacial syndrome NGS Genetic DNA Test gene LRIG2

Detail Description

LRIG2 Gene Urofacial Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Urofacial syndrome is a rare genetic disorder that affects the function of the bladder and facial muscles. It is caused by mutations in the LRIG2 gene, which provides instructions for making a protein that is involved in the development and maintenance of nerve cells.

Symptoms of urofacial syndrome include difficulty controlling the flow of urine, urinary tract infections, and an inability to fully empty the bladder. Patients may also have facial abnormalities, including a flattened mid-face, small jaw, and a thin upper lip.

Diagnosis of urofacial syndrome is typically made through a combination of clinical evaluation and genetic testing. Next-generation sequencing (NGS) genetic testing can identify mutations in the LRIG2 gene, providing a definitive diagnosis.

NGS genetic testing for urofacial syndrome costs INR 20,000 in India. This test can be ordered by a healthcare provider and involves collecting a small sample of blood or saliva from the patient.

It is important to diagnose urofacial syndrome as early as possible in order to manage symptoms and prevent complications. Treatment may include medication to improve bladder function, surgery to correct facial abnormalities, and physical therapy to improve muscle strength and coordination.

If you or a loved one are experiencing symptoms of urofacial syndrome, speak with a healthcare provider about genetic testing for LRIG2 mutations. With early diagnosis and treatment, patients with urofacial syndrome can lead happy and healthy lives.