Short Description

NGS genetic DNA test detecets for variant and mutation detection in NRXN1 gene for Pitt-Hopkins syndrome

PreTest Information

Clinical History of Patient who is going for NRXN1 Gene Pitt-Hopkins syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NRXN1 Gene Pitt-Hopkins syndrome NGS Genetic DNA Test gene NRXN1

Detail Description

NRXN1 Gene Pitt-Hopkins Syndrome NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis

Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder that affects the development of the brain and causes intellectual disability. It is caused by mutations in the NRXN1 gene. NRXN1 is responsible for encoding a protein that helps in the formation of synapses between neurons in the brain. Mutations in this gene disrupt the normal functioning of the synapses, leading to PTHS.

Symptoms of PTHS

The symptoms of PTHS vary greatly from person to person. However, some common symptoms include:

• Intellectual disability: People with PTHS have intellectual disability ranging from mild to severe.
• Delayed development: Children with PTHS may have delayed development, such as delayed speech and motor skills.
• Seizures: About 80% of people with PTHS have seizures.
• Abnormal breathing: Some people with PTHS have abnormal breathing patterns, such as hyperventilation or breath-holding.
• Distinct facial features: People with PTHS may have a wide mouth, full lips, and a prominent chin.

Diagnosis of PTHS

Diagnosis of PTHS is based on clinical features and genetic testing. A doctor may suspect PTHS based on the symptoms and physical examination. Genetic testing can confirm the diagnosis. The most common genetic test for PTHS is Next-Generation Sequencing (NGS) of the NRXN1 gene.

NGS Genetic DNA Test Cost INR 20000

DNA Labs India offers NGS Genetic DNA testing for PTHS at a cost of INR 20000. The test is performed on a blood sample. The test can detect mutations in the NRXN1 gene that cause PTHS.

The test is highly accurate and can detect mutations even in cases where other genetic tests have failed. The test is performed in a state-of-the-art laboratory using advanced technology.

Conclusion

PTHS is a rare genetic disorder that affects the development of the brain and causes intellectual disability. It is caused by mutations in the NRXN1 gene. Genetic testing is the most reliable method to diagnose PTHS. DNA Labs India offers NGS Genetic DNA testing for PTHS at a cost of INR 20000. Early diagnosis of PTHS can help in better management of the condition and improve the quality of life of affected individuals.

For more information about NGS Genetic DNA testing for PTHS, contact DNA Labs India today.

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 NRXN1 Gene Pitt-Hopkins syndrome NGS Genetic DNA Test