Short Description

NGS genetic DNA test detecets for variant and mutation detection in RPS28 gene for Diamond Blackfan anemia type 15 with mandibulofacial dysostosis

PreTest Information

Clinical History of Patient who is going for RPS28 Gene Diamond Blackfan anemia type 15 with mandibulofacial dysostosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RPS28 Gene Diamond Blackfan anemia type 15 with mandibulofacial dysostosis NGS Genetic DNA Test gene RPS28

Detail Description

RPS28 Gene Diamond Blackfan Anemia Type 15 with Mandibulofacial Dysostosis NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Diamond-Blackfan anemia (DBA) is a rare genetic disorder that affects the production of red blood cells in the body. It is caused by mutations in different genes, including RPS28 gene, which is involved in the synthesis of ribosomes, the cellular machinery that produces proteins. DBA can also be associated with other abnormalities, such as mandibulofacial dysostosis (MFD), a condition that affects the development of the jaw and facial bones.

Symptoms of RPS28 Gene DBA Type 15 with MFD

The symptoms of RPS28 Gene DBA Type 15 with MFD can vary widely depending on the severity of the condition and the age of onset. Some common symptoms include:

• Anemia (low red blood cell count)
• Feeding difficulties in infants
• Growth retardation
• Developmental delays
• Facial abnormalities, such as cleft palate, small jaw, and low-set ears
• Bone abnormalities, such as short stature and skeletal anomalies
• Heart defects

Diagnosis of RPS28 Gene DBA Type 15 with MFD

Diagnosis of RPS28 Gene DBA Type 15 with MFD requires a genetic test, such as Next-Generation Sequencing (NGS) DNA test. This test can detect mutations in the RPS28 gene and other genes associated with DBA and MFD. It involves collecting a blood or saliva sample from the patient and analyzing the DNA for genetic abnormalities. The test can also provide information about the severity of the condition and the risk of passing it on to future generations.

NGS Genetic DNA Test Cost INR:20000

The cost of NGS Genetic DNA Test for RPS28 Gene DBA Type 15 with MFD in India is typically around INR 20000. However, the cost may vary depending on the laboratory and the specific tests included in the panel. Some insurance plans may cover the cost of genetic testing, so it is recommended to check with the provider before proceeding with the test.

Conclusion

RPS28 Gene DBA Type 15 with MFD is a rare genetic disorder that can cause a range of symptoms, including anemia, growth retardation, and facial abnormalities. Diagnosis of the condition requires a genetic test, such as NGS DNA test, which can detect mutations in the RPS28 gene and other genes associated with DBA and MFD. The cost of the test in India is typically around INR 20000, and it is important to check with the insurance provider for coverage. Early diagnosis and treatment can improve the quality of life for patients with RPS28 Gene DBA Type 15 with MFD.

If you suspect that you or a loved one may have RPS28 Gene DBA Type 15 with MFD, it is recommended to consult with a genetic counselor or healthcare provider for further evaluation and testing.

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 RPS28 Gene Diamond Blackfan anemia type 15 with mandibulofacial dysostosis NGS Genetic DNA Test