Test Name	RPS17 Gene Diamond-Blackfan anemia type 4 NGS Genetic DNA Test
Test type	Hematologist
Pre-test Information	Clinical History of Patient who is going for RPS17 Gene Diamond-Blackfan anemia type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RPS17 Gene Diamond-Blackfan anemia type 4 NGS Genetic DNA Test gene RPS17
Report Delivery	3 to 4 Weeks
Components
Price	₹ 20000
Method	NGS Technology

Short Description

NGS genetic DNA test detecets for variant and mutation detection in RPS17 gene for Diamond-Blackfan anemia type 4

PreTest Information

Clinical History of Patient who is going for RPS17 Gene Diamond-Blackfan anemia type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RPS17 Gene Diamond-Blackfan anemia type 4 NGS Genetic DNA Test gene RPS17

Detail Description

RPS17 Gene Diamond-Blackfan Anemia Type 4 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Diamond-Blackfan Anemia (DBA) is a rare genetic blood disorder characterized by a failure of the bone marrow to produce red blood cells. It affects about 5-7 individuals per million worldwide. DBA is a hereditary condition, which means that it is passed down from parents to their children. There are currently 19 known genetic mutations associated with DBA, and one of them is the RPS17 gene mutation. The RPS17 gene is responsible for the production of a protein called ribosomal protein S17. This protein is involved in the process of making new red blood cells. A mutation in the RPS17 gene can cause a reduction or absence of ribosomal protein S17, leading to the development of DBA. Symptoms of DBA include anemia, fatigue, pale skin, short stature, and birth defects such as cleft palate or webbed neck. These symptoms usually appear in the first year of life. Diagnosis of DBA involves a series of tests, including a complete blood count, bone marrow biopsy, and genetic testing. Genetic testing is the most reliable way to diagnose DBA and identify the specific genetic mutation responsible for the condition. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes simultaneously, including the RPS17 gene. NGS genetic DNA testing for the RPS17 gene mutation is available at DNA Labs India. The cost of the test is INR 20,000. The test requires a blood sample from the patient, which is analyzed using NGS technology. The results of the test can provide a definitive diagnosis of DBA and identify the specific RPS17 gene mutation responsible for the condition. In conclusion, DBA is a rare genetic blood disorder caused by a mutation in the RPS17 gene. Symptoms of DBA include anemia, fatigue, pale skin, short stature, and birth defects. Diagnosis of DBA involves a series of tests, including genetic testing. NGS genetic DNA testing for the RPS17 gene mutation is available at DNA Labs India for a cost of INR 20,000. If you or someone you know is experiencing symptoms of DBA, it is important to seek medical attention and consider genetic testing for a definitive diagnosis.

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 RPS17 Gene Diamond-Blackfan anemia type 4 NGS Genetic DNA Test