Short Description

NGS genetic DNA test detecets for variant and mutation detection in PTPRC gene for Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive

PreTest Information

Clinical History of Patient who is going for PTPRC Gene Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PTPRC Gene Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive NGS Genetic DNA Test gene PTPRC

Detail Description

PTPRC Gene and Severe Combined Immunodeficiency: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Severe combined immunodeficiency (SCID) is a rare genetic disorder that affects the immune system, making individuals highly susceptible to infections. One of the genes associated with SCID is the protein tyrosine phosphatase receptor type C (PTPRC) gene. Mutations in this gene can lead to T cell-negative, B-cell/natural killer-cell positive SCID, a subtype of the disorder.

Symptoms of PTPRC Gene SCID

PTPRC Gene SCID symptoms can vary depending on the severity of the condition and the age of onset. Infants with SCID may present with:

• Recurrent, severe infections that do not respond to treatment
• Failure to thrive and poor weight gain
• Chronic diarrhea
• Severe skin rashes
• Enlarged liver and spleen

In addition, affected individuals may have low levels of T cells, which are responsible for fighting infections, and normal to high levels of B cells and natural killer cells.

Diagnosis of PTPRC Gene SCID

SCID is usually diagnosed in infancy, although milder forms of the disorder may not be identified until later in life. Diagnosis typically involves a combination of medical history, physical examination, and laboratory tests.

One of the laboratory tests used to diagnose SCID is genetic testing. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes simultaneously, including the PTPRC gene. NGS can help identify mutations in the gene that may be responsible for SCID.

NGS Genetic DNA Test Cost for PTPRC Gene SCID

The cost of NGS genetic DNA testing for PTPRC Gene SCID can vary depending on the provider and location. In India, the cost of the test is typically around INR 20,000.

It is important to note that NGS genetic DNA testing for PTPRC Gene SCID is not routinely offered as a screening test. It is typically reserved for individuals with symptoms suggestive of the disorder or those with a family history of SCID.

Conclusion

PTPRC Gene SCID is a rare genetic disorder that can lead to severe immune system dysfunction. Symptoms may include recurrent infections, failure to thrive, and chronic diarrhea. Diagnosis typically involves a combination of medical history, physical examination, and laboratory tests, including NGS genetic DNA testing. The cost of the test in India is around INR 20,000. It is important to discuss any concerns or symptoms with a healthcare professional and undergo appropriate testing if necessary.

For more information on genetic testing and SCID, 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 PTPRC Gene Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive NGS Genetic DNA Test