Genetic Lab Blog – NBAS Gene Short stature optic nerve atrophy and Pelger-Huet anomaly Genetic Test

Welcome to DNA Labs UAE’s blog post on the NBAS Gene Short stature optic nerve atrophy and Pelger-Huet anomaly Genetic Test. In this blog, we will discuss the test details, components, price, sample condition, report delivery time, method, test type, doctor, test department, pre-test information, and the importance of genetic counseling.

Test Details

The NBAS gene, also known as NAGA-Binding Protein (NAGA-BP), is associated with a rare genetic disorder called Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly (SOPH). This disorder is characterized by several symptoms, including short stature, optic nerve atrophy (resulting in vision problems), and Pelger-Huet anomaly (abnormal shape of certain white blood cells).

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of an individual. It allows for the simultaneous analysis of multiple genes, providing a comprehensive assessment of genetic variations. In the case of NBAS gene-related disorders, NGS can be used to identify mutations or variants in the NBAS gene that may be responsible for the symptoms observed in the individual.

NGS genetic testing can help confirm a diagnosis of SOPH by detecting mutations in the NBAS gene. It can also be useful for genetic counseling and family planning, as it can provide information about the inheritance pattern of the disorder and the likelihood of passing it on to future generations.

It is important to note that NGS genetic testing should be performed by a qualified geneticist or genetic counselor who can interpret the results and provide appropriate recommendations based on the individual’s specific situation.

Test Components and Price

The NBAS Gene Short stature optic nerve atrophy and Pelger-Huet anomaly Genetic Test costs AED 4400.0. The test requires a sample condition of either blood, extracted DNA, or one drop of blood on an FTA card.

Report Delivery

The report for the NBAS Gene Short stature optic nerve atrophy and Pelger-Huet anomaly Genetic Test is typically delivered within 3 to 4 weeks.

Method and Test Type

The NBAS Gene Short stature optic nerve atrophy and Pelger-Huet anomaly Genetic Test utilizes NGS (Next-Generation Sequencing) technology.

The test type is Dysmorphology, focusing on the study of abnormal physical features and developmental anomalies.

Doctor and Test Department

The NBAS Gene Short stature optic nerve atrophy and Pelger-Huet anomaly Genetic Test is conducted under the supervision of a Pediatrics doctor. The test is performed in the Genetics department of the lab.

Pre Test Information

Before undergoing the NBAS Gene Short stature optic nerve atrophy and Pelger-Huet anomaly Genetic Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session is recommended to draw a pedigree chart of family members affected by NBAS Gene-related disorders.

This pre-test information helps in assessing the relevance of the test and ensures accurate interpretation of the test results.

Conclusion

The NBAS Gene Short stature optic nerve atrophy and Pelger-Huet anomaly Genetic Test is a valuable tool in diagnosing and understanding SOPH-related disorders. It provides comprehensive genetic analysis using NGS technology, allowing for the identification of mutations in the NBAS gene.

This test not only helps in confirming a diagnosis but also aids in genetic counseling and family planning. It is important to consult with a qualified geneticist or genetic counselor for proper interpretation of the test results and personalized recommendations.

For more information or to schedule the NBAS Gene Short stature optic nerve atrophy and Pelger-Huet anomaly Genetic Test, please contact DNA Labs UAE.