Short Description

NGS genetic DNA test detecets for variant and mutation detection in DCLRE1C gene for Severe combined immunodeficiency, Athabascan type

PreTest Information

Clinical History of Patient who is going for DCLRE1C Gene Severe combined immunodeficiency, Athabascan type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DCLRE1C Gene Severe combined immunodeficiency, Athabascan type NGS Genetic DNA Test gene DCLRE1C

Detail Description

DNA Labs India: Understanding DCLRE1C Gene Severe Combined Immunodeficiency, Athabascan Type

Severe combined immunodeficiency (SCID) is a rare genetic disorder that affects the immune system's ability to fight off infections. One of the types of SCID is caused by mutations in the DCLRE1C gene, also known as Artemis. This type of SCID is called Athabascan type SCID.

Symptoms of Athabascan Type SCID

Infants with Athabascan type SCID usually begin showing symptoms within the first few months of life. These symptoms may include:

• Recurrent infections
• Chronic diarrhea
• Failure to thrive
• Low white blood cell count
• Low platelet count
• Low red blood cell count

Without treatment, Athabascan type SCID can be fatal in the first year of life.

Diagnosis of Athabascan Type SCID

Diagnosing Athabascan type SCID typically involves a combination of blood tests and genetic testing. Doctors may also perform a biopsy of the bone marrow to look for abnormalities.

NGS Genetic DNA Test for DCLRE1C Gene Severe Combined Immunodeficiency, Athabascan Type

NGS (next-generation sequencing) genetic DNA testing can help identify mutations in the DCLRE1C gene that cause Athabascan type SCID. This test can be performed on a blood sample or a saliva sample.

At DNA Labs India, we offer NGS genetic DNA testing for DCLRE1C gene SCID at a cost of INR 20,000. Our test is highly accurate and can provide valuable information for diagnosis and treatment.

Conclusion

If you suspect that your child may have Athabascan type SCID, it is important to seek medical attention as soon as possible. With early diagnosis and treatment, children with SCID can go on to lead healthy, normal lives.

At DNA Labs India, we are committed to providing high-quality genetic testing services to help diagnose and treat a wide range of genetic disorders. Contact us today to learn more about our NGS genetic DNA testing for DCLRE1C gene SCID.