Short Description

NGS genetic DNA test detecets for variant and mutation detection in LRP2 gene for Donnai-Barrow syndrome

PreTest Information

Clinical History of Patient who is going for LRP2 Gene Donnai-Barrow syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LRP2 Gene Donnai-Barrow syndrome NGS Genetic DNA Test gene LRP2

Detail Description

LRP2 Gene and Donnai-Barrow Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Donnai-Barrow Syndrome (DBS) is a rare genetic disorder that affects an estimated 1 in 1,000,000 people worldwide. It is caused by mutations in the LRP2 gene, which provides instructions for making a protein called megalin. Megalin is involved in the transport of various substances in the body, including vitamin D, cholesterol, and certain hormones.

DBS is characterized by a range of physical and developmental abnormalities, including:

• Facial features such as a prominent forehead, wide-set eyes, and a small mouth and chin
• Abnormalities of the brain and spinal cord
• Heart defects
• Developmental delays and intellectual disability
• Hearing and vision problems

Diagnosis of DBS typically involves a combination of clinical evaluation, imaging studies, and genetic testing. Next-generation sequencing (NGS) genetic DNA testing can identify mutations in the LRP2 gene that are associated with DBS.

The cost of NGS genetic DNA testing for DBS in India is approximately INR 20,000. This cost may vary depending on the specific testing facility and any additional testing or counseling services that may be required.

Early diagnosis of DBS is important for appropriate management and treatment of the condition. While there is no cure for DBS, supportive care and interventions can help improve quality of life for affected individuals and their families. Genetic counseling may also be recommended for families affected by DBS to provide information and support for decision-making regarding family planning and future pregnancies.

In conclusion, Donnai-Barrow Syndrome is a rare genetic disorder caused by mutations in the LRP2 gene. NGS genetic DNA testing can identify these mutations and aid in diagnosis. The cost of NGS genetic DNA testing in India for DBS is approximately INR 20,000. Early diagnosis and appropriate management can improve outcomes for individuals with DBS and their families.

For more information on genetic testing and counseling services in India, contact DNA Labs India.

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 LRP2 Gene Donnai-Barrow syndrome NGS Genetic DNA Test