Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATRX gene for Alpha-thalassemia/mental retardation syndrome

PreTest Information

Clinical History of Patient who is going for ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic DNA Test gene ATRX

Detail Description

ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Introduction

ATRX Gene Alpha-thalassemia/mental retardation syndrome is a rare genetic disorder that affects the development of the brain and other parts of the body. It is caused by mutations in the ATRX gene, which provides instructions for making a protein that is involved in the structure and function of chromosomes. This disorder is inherited in an X-linked pattern, which means that it mostly affects males and is passed down from mothers who carry the mutated gene.

NGS Genetic DNA Test is a genetic testing method that uses next-generation sequencing technology to analyze multiple genes at the same time. This test can help diagnose ATRX Gene Alpha-thalassemia/mental retardation syndrome by identifying mutations in the ATRX gene.

Symptoms

The symptoms of ATRX Gene Alpha-thalassemia/mental retardation syndrome can vary widely, but may include:

• Mental retardation
• Delayed speech development
• Seizures
• Muscle weakness
• Abnormal facial features
• Small head size (microcephaly)
• Anemia

Diagnosis

Diagnosing ATRX Gene Alpha-thalassemia/mental retardation syndrome involves a combination of physical examination, medical history, and genetic testing. NGS Genetic DNA Test is a highly accurate diagnostic tool that can detect mutations in the ATRX gene. This test requires a blood sample or tissue sample from the patient, which is then analyzed in a laboratory.

Cost

The cost of NGS Genetic DNA Test for ATRX Gene Alpha-thalassemia/mental retardation syndrome in India is approximately INR 20000. This cost may vary depending on the laboratory and location.

Conclusion

ATRX Gene Alpha-thalassemia/mental retardation syndrome is a rare genetic disorder that can have serious consequences for affected individuals and their families. NGS Genetic DNA Test is a powerful diagnostic tool that can help identify mutations in the ATRX gene and provide valuable information for treatment and management of the disorder. If you suspect that you or a loved one may have ATRX Gene Alpha-thalassemia/mental retardation syndrome, it is important to seek medical advice and consider genetic testing.