Short Description

NGS genetic DNA test detecets for variant and mutation detection in XK gene for McLeod syndrome with or without chronic granulomatous disease

PreTest Information

Clinical History of Patient who is going for XK Gene McLeod syndrome with or without chronic granulomatous disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with XK Gene McLeod syndrome with or without chronic granulomatous disease NGS Genetic DNA Test gene XK

Detail Description

XK Gene McLeod Syndrome with or without Chronic Granulomatous Disease NGS Genetic DNA Test Cost INR: 20,000 Symptoms Diagnosis

McLeod syndrome is a rare genetic disorder that affects the blood cells and nervous system. It is caused by mutations in the XK gene which is responsible for producing a protein that helps red blood cells function properly. This syndrome can occur with or without chronic granulomatous disease (CGD), which is another rare genetic disorder that affects the immune system.

Symptoms of McLeod Syndrome

McLeod syndrome can cause a range of symptoms that vary in severity. Some of the common symptoms include:

• Muscle weakness and wasting
• Movement disorders
• Heart problems
• Abnormalities in the blood cells
• Neuropsychiatric symptoms such as depression and anxiety

CGD, if present, can cause recurrent bacterial and fungal infections, chronic inflammation, and granuloma formation.

Diagnosis

Diagnosis of McLeod syndrome can be challenging as it is a rare condition and its symptoms overlap with other disorders. A thorough physical examination, medical history, and family history can help in the diagnosis. A genetic test is necessary to confirm the diagnosis and to determine the specific mutation in the XK gene.

NGS Genetic DNA Test

Next-generation sequencing (NGS) genetic DNA test is a powerful diagnostic tool that can analyze large amounts of genetic data quickly and accurately. It can detect mutations in multiple genes simultaneously, which is particularly useful for rare genetic disorders like McLeod syndrome. The cost of NGS genetic DNA test for McLeod syndrome with or without CGD is INR: 20,000.

Conclusion

McLeod syndrome with or without CGD is a rare genetic disorder that can cause a range of symptoms. It can be challenging to diagnose, but a genetic test like NGS can help in confirming the diagnosis. The cost of NGS genetic DNA test for McLeod syndrome is INR: 20,000. Early diagnosis is crucial for better management and treatment of the condition.

If you or your loved ones are experiencing any of the symptoms mentioned above, consult a genetic counselor or a healthcare provider for a thorough evaluation and diagnosis.

For more information on genetic testing and counseling, 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 XK Gene McLeod syndrome with or without chronic granulomatous disease NGS Genetic DNA Test