Short Description

NGS genetic DNA test detecets for variant and mutation detection in RPL5 gene for Diamond-Blackfan anemia type 6

PreTest Information

Clinical History of Patient who is going for RPL5 Gene Diamond-Blackfan anemia type 6 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RPL5 Gene Diamond-Blackfan anemia type 6 NGS Genetic DNA Test gene RPL5

Detail Description

RPL5 Gene Diamond-Blackfan Anemia Type 6 NGS Genetic DNA Test

Diamond-Blackfan anemia (DBA) is a rare genetic disorder that affects the bone marrow's ability to produce red blood cells. DBA is typically diagnosed in the first year of life, and it is characterized by severe anemia, which can lead to various complications.

DBA is caused by mutations in several different genes, including the RPL5 gene. RPL5 is responsible for producing a protein that is necessary for the proper formation of ribosomes, which are essential for the production of proteins in the body.

Symptoms of DBA

The symptoms of DBA can vary from person to person, but they typically include:

• Severe anemia
• Pale skin
• Fatigue and weakness
• Shortness of breath
• Heart palpitations
• Growth retardation
• Craniofacial abnormalities
• Thumb abnormalities

Some people with DBA may also develop other health problems, such as hearing loss, kidney problems, and skeletal abnormalities.

Diagnosis of DBA

DBA is typically diagnosed through a combination of blood tests, bone marrow tests, and genetic testing. Blood tests can reveal low levels of red blood cells, while bone marrow tests can show a lack of red blood cell production. Genetic testing can identify mutations in the RPL5 gene or other genes associated with DBA.

RPL5 Gene Diamond-Blackfan Anemia Type 6 NGS Genetic DNA Test

The RPL5 Gene Diamond-Blackfan Anemia Type 6 NGS Genetic DNA Test is a genetic test that can identify mutations in the RPL5 gene that are associated with DBA. This test uses next-generation sequencing (NGS) technology to analyze a person's DNA and identify any mutations in the RPL5 gene.

The cost of the RPL5 Gene Diamond-Blackfan Anemia Type 6 NGS Genetic DNA Test is INR 20,000.

Conclusion

If you or your child is experiencing symptoms of DBA, it is important to seek medical attention as soon as possible. A diagnosis of DBA can be made through a combination of blood tests, bone marrow tests, and genetic testing, including the RPL5 Gene Diamond-Blackfan Anemia Type 6 NGS Genetic DNA Test.

Early diagnosis and treatment of DBA can help to prevent complications and improve quality of life. DNA Labs India offers a variety of genetic tests, including the RPL5 Gene Diamond-Blackfan Anemia Type 6 NGS Genetic DNA Test, to help diagnose and manage genetic disorders.

Contact DNA Labs India to schedule a genetic test or to learn more about our services.