Short Description

NGS genetic DNA test detecets for variant and mutation detection in PEX1 gene for Heimler syndrome type 1

PreTest Information

Clinical History of Patient who is going for EYA1 Gene Branchiootic syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EYA1 Gene Branchiootic syndrome type 1 NGS Genetic DNA Test gene EYA14

Detail Description

PEX1 Gene Heimler Syndrome Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Heimler Syndrome Type 1 is a rare genetic disorder that affects the development of several parts of the body. It is caused by mutations in the PEX1 gene. The PEX1 gene provides instructions for making a protein that is involved in the formation of peroxisomes, which are cell structures that break down many different types of molecules. Peroxisomes are important for the normal function of many organs and tissues, including the liver, kidneys, and brain.

Heimler Syndrome Type 1 is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated PEX1 gene (one from each parent) to develop the condition. Symptoms of Heimler Syndrome Type 1 can vary widely, even among members of the same family. Some of the common symptoms include:

• Deafness
• Vision problems
• Developmental delay
• Speech and language difficulties
• Small head size (microcephaly)
• Abnormal facial features
• Seizures
• Enlarged liver (hepatomegaly)
• Enlarged spleen (splenomegaly)
• Kidney abnormalities

If you or your child is experiencing any of these symptoms, it is important to seek medical attention right away. A diagnosis of Heimler Syndrome Type 1 can be confirmed through genetic testing, which can detect mutations in the PEX1 gene. At DNA Labs India, we offer NGS Genetic DNA Test for Heimler Syndrome Type 1 at an affordable cost of INR 20000. This test uses advanced next-generation sequencing technology to analyze the entire PEX1 gene, providing a comprehensive and accurate diagnosis.

Our team of experienced genetic counselors and laboratory technicians is dedicated to providing the highest quality testing services to our clients. We use state-of-the-art equipment and follow strict quality control procedures to ensure the accuracy and reliability of our test results. We also offer confidential and personalized support to help our clients understand their test results and make informed decisions about their health.

If you have any questions or concerns about Heimler Syndrome Type 1 or our NGS Genetic DNA Test, please do not hesitate to contact us. Our friendly and knowledgeable staff is always available to provide information and support.

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 PEX1 Gene Heimler syndrome type 1 NGS Genetic DNA Test