CEP57 Gene Mosaic Variegated Aneuploidy Syndrome Type 2 Genetic Test
Genetic testing plays a crucial role in diagnosing and understanding genetic disorders. One such disorder is CEP57 Gene Mosaic Variegated Aneuploidy Syndrome Type 2 (MVA2). DNA Labs UAE offers a comprehensive genetic test for this syndrome.
Test Name: CEP57 Gene Mosaic Variegated Aneuploidy Syndrome Type 2 Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test Type: Dysmorphology
Doctor: Pediatrics
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for CEP57 Gene Mosaic Variegated Aneuploidy Syndrome Type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CEP57 Gene Mosaic Variegated Aneuploidy Syndrome Type 2 NGS Genetic DNA Test gene CEP57
Test Details
CEP57 gene mosaic variegated aneuploidy syndrome type 2 (MVA2) is a rare genetic disorder characterized by mosaic variegated aneuploidy, which refers to the presence of cells with an abnormal number of chromosomes. MVA2 is caused by mutations in the CEP57 gene.
NGS (Next-Generation Sequencing) genetic testing is a diagnostic tool used to identify mutations or variations in genes associated with genetic disorders. It is a high-throughput sequencing method that allows for the simultaneous analysis of multiple genes or the entire exome (the protein-coding region of the genome).
NGS testing can provide a comprehensive analysis of the CEP57 gene and other genes related to mosaic variegated aneuploidy syndrome type 2. By analyzing the patient’s DNA, NGS testing can identify specific mutations or variations in the CEP57 gene that may be responsible for the development of MVA2.
This information can help with accurate diagnosis, genetic counseling, and potentially guide treatment options for individuals with this condition.
It is important to note that genetic testing, including NGS, should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate recommendations based on the individual’s specific situation.
Test Name | CEP57 Gene Mosaic variegated aneuploidy syndrome type 2 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 | Dysmorphology |
Doctor | Pediatrics |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for CEP57 Gene Mosaic variegated aneuploidy syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CEP57 Gene Mosaic variegated aneuploidy syndrome type 2 NGS Genetic DNA Test gene CEP57 |
Test Details |
CEP57 gene mosaic variegated aneuploidy syndrome type 2 (MVA2) is a rare genetic disorder characterized by mosaic variegated aneuploidy, which refers to the presence of cells with an abnormal number of chromosomes. MVA2 is caused by mutations in the CEP57 gene. NGS (Next-Generation Sequencing) genetic testing is a diagnostic tool used to identify mutations or variations in genes associated with genetic disorders. It is a high-throughput sequencing method that allows for the simultaneous analysis of multiple genes or the entire exome (the protein-coding region of the genome). NGS testing can provide a comprehensive analysis of the CEP57 gene and other genes related to mosaic variegated aneuploidy syndrome type 2. By analyzing the patient’s DNA, NGS testing can identify specific mutations or variations in the CEP57 gene that may be responsible for the development of MVA2. This information can help with accurate diagnosis, genetic counseling, and potentially guide treatment options for individuals with this condition. It is important to note that genetic testing, including NGS, should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate recommendations based on the individual’s specific situation. |