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RPS28 Gene Diamond Blackfan Anemia Type 15 with Mandibulofacial Dysostosis Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The RPS28 Gene Diamond Blackfan Anemia Type 15 with Mandibulofacial Dysostosis Genetic Test is a specialized diagnostic tool offered by DNA Labs UAE, designed to identify mutations in the RPS28 gene. These mutations are associated with a rare and complex form of Diamond Blackfan Anemia (DBA) Type 15, characterized not only by the bone marrow’s failure to produce sufficient red blood cells but also by mandibulofacial dysostosis, a condition affecting the development of the face and jaw.

Diamond Blackfan Anemia is a congenital erythroid aplasia that typically presents early in infancy. Patients with DBA show symptoms such as fatigue, pallor, and growth retardation, due to anemia. The specific subtype, associated with mutations in the RPS28 gene, includes additional physical malformations, particularly affecting craniofacial development. This genetic test is crucial for accurate diagnosis, guiding treatment plans, and providing information on the prognosis.

The cost of the RPS28 Gene Diamond Blackfan Anemia Type 15 with Mandibulofacial Dysostosis Genetic Test at DNA Labs UAE is 4400 AED. Conducted in a state-of-the-art facility, the test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed for specific genetic alterations in the RPS28 gene. Results from this test can help in confirming the diagnosis, enabling personalized treatment strategies, and offering genetic counseling for affected families.

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RPS28 Gene Diamond Blackfan Anemia Type 15 with Mandibulofacial Dysostosis Genetic Test

Test Name: RPS28 Gene Diamond Blackfan Anemia Type 15 with Mandibulofacial Dysostosis Genetic Test

Components: NGS Technology

Price: 4400.0 AED

Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery: 3 to 4 Weeks

Test Type: Hematology

Doctor: Hematologist

Test Department: Genetics

Pre Test 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

Test Details

NGS (Next-Generation Sequencing) Genetic Test is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of RPS28 gene Diamond Blackfan Anemia Type 15 with Mandibulofacial Dysostosis, this test would involve sequencing the RPS28 gene to identify any mutations or variations that may be associated with the condition.

Diamond Blackfan Anemia (DBA) is a rare genetic disorder characterized by a deficiency in red blood cell production, leading to anemia. DBA can be caused by mutations in various genes, including the RPS28 gene. Type 15 refers to a specific subtype of DBA caused by mutations in the RPS28 gene.

Mandibulofacial Dysostosis is a condition characterized by abnormal development of the jaw and facial bones. It can occur as a result of various genetic mutations, including those associated with DBA.

The NGS Genetic Test for RPS28 gene DBA Type 15 with Mandibulofacial Dysostosis would involve obtaining a DNA sample from the individual, usually through a blood or saliva sample. The DNA is then sequenced using NGS technology to identify any mutations or variations in the RPS28 gene.

The results of the test can help confirm a diagnosis of DBA Type 15 with Mandibulofacial Dysostosis and guide appropriate treatment and management options.

Test Name RPS28 Gene Diamond Blackfan anemia type 15 with mandibulofacial dysostosis Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Hematology
Doctor Hematologist
Test Department: Genetics
Pre Test 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
Test Details

NGS (Next-Generation Sequencing) Genetic Test is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of RPS28 gene Diamond Blackfan anemia type 15 with mandibulofacial dysostosis, this test would involve sequencing the RPS28 gene to identify any mutations or variations that may be associated with the condition.

Diamond Blackfan anemia (DBA) is a rare genetic disorder characterized by a deficiency in red blood cell production, leading to anemia. DBA can be caused by mutations in various genes, including the RPS28 gene. Type 15 refers to a specific subtype of DBA caused by mutations in the RPS28 gene.

Mandibulofacial dysostosis is a condition characterized by abnormal development of the jaw and facial bones. It can occur as a result of various genetic mutations, including those associated with DBA.

The NGS Genetic Test for RPS28 gene DBA type 15 with mandibulofacial dysostosis would involve obtaining a DNA sample from the individual, usually through a blood or saliva sample. The DNA is then sequenced using NGS technology to identify any mutations or variations in the RPS28 gene. The results of the test can help confirm a diagnosis of DBA type 15 with mandibulofacial dysostosis and guide appropriate treatment and management options.

SKU: TEST-3879 Category:

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