Short Description

NGS genetic DNA test detecets for variant and mutation detection in LARP7 gene for Alazami syndrome

PreTest Information

Clinical History of Patient who is going for LARP7 Gene Alazami syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LARP7 Gene Alazami syndrome NGS Genetic DNA Test gene LARP7

Detail Description

LARP7 Gene and Alazami Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Alazami syndrome is a rare genetic disorder that affects the development of multiple organs and systems in the body. It is caused by mutations in the LARP7 gene, which provides instructions for making a protein that is involved in the processing of RNA molecules.

Symptoms of Alazami Syndrome

The symptoms of Alazami syndrome can vary widely, even among people with the same genetic mutation. Some common symptoms include:

• Developmental delays and intellectual disability
• Facial abnormalities, such as a small head size, low-set ears, and a small jaw
• Heart defects
• Abnormalities of the kidneys and urinary tract
• Abnormalities of the bones and joints

Other features that have been reported in some people with Alazami syndrome include seizures, hearing loss, and eye problems.

Diagnosis of Alazami Syndrome

Alazami syndrome is diagnosed through genetic testing, which can identify mutations in the LARP7 gene. This testing can be done through a variety of methods, including:

• Next-generation sequencing (NGS)
• Sanger sequencing
• Whole exome sequencing (WES)

NGS is a powerful tool for genetic testing because it allows for the simultaneous analysis of multiple genes, which can reduce the time and cost of testing. However, it is important to note that NGS testing may not detect all types of mutations, and additional testing may be needed to confirm a diagnosis.

NGS Genetic DNA Test Cost for Alazami Syndrome

The cost of NGS genetic testing for Alazami syndrome can vary depending on the specific test and the laboratory performing the test. However, in India, the cost of NGS genetic testing for Alazami syndrome is typically around INR 20,000.

It is important to note that genetic testing may not be covered by insurance, and out-of-pocket costs can be high. However, some laboratories offer financial assistance programs or payment plans to help make testing more affordable.

Conclusion

Alazami syndrome is a rare genetic disorder that can have a wide range of symptoms. Genetic testing, including NGS testing, can help diagnose this condition and provide important information for treatment and management. While the cost of testing can be high, financial assistance programs may be available to help make testing more affordable.

If you suspect that you or a loved one may have Alazami syndrome, it is important to speak with a genetic counselor or healthcare provider to discuss testing options and next steps.

For more information on genetic testing and Alazami syndrome, 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 LARP7 Gene Alazami syndrome NGS Genetic DNA Test