Short Description

NGS genetic DNA test detecets for variant and mutation detection in AKT3 gene for Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2

PreTest Information

Clinical History of Patient who is going for AKT3 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AKT3 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2 NGS Genetic DNA Test gene AKT3

Detail Description

AKT3 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2 NGS Genetic DNA Test

AKT3 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2 (MPPH2) is a rare genetic disorder that affects brain development, causing abnormal growth of the brain and other parts of the body. This condition is caused by mutations in the AKT3 gene, which provides instructions for making a protein that is involved in the growth and development of cells.

Individuals with MPPH2 may have a range of symptoms, including:

• Enlarged head (megalencephaly)
• Abnormal brain development (polymicrogyria)
• Extra fingers or toes (polydactyly)
• Buildup of fluid in the brain (hydrocephalus)

Diagnosis of MPPH2 can be challenging, as the symptoms can be variable and may overlap with those of other conditions. Genetic testing is often used to confirm a diagnosis of MPPH2 and to identify the specific genetic mutation responsible for the condition.

NGS Genetic DNA testing is a powerful tool that can detect genetic mutations with high accuracy and precision. This type of testing uses next-generation sequencing technology to analyze the DNA sequence of the AKT3 gene and identify any mutations that may be present.

The cost of the AKT3 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2 NGS Genetic DNA Test is INR 20,000. This test is available through DNA Labs India, a leading provider of genetic testing services in the country.

If you or a loved one are experiencing symptoms of MPPH2 or have a family history of the condition, it is important to seek medical attention and consider genetic testing. Early diagnosis and treatment can improve outcomes and quality of life for individuals with this rare genetic disorder.