AP4M1 Gene Microcephaly AP4M1 related Genetic Test
Test Name: AP4M1 Gene Microcephaly AP4M1 related Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
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 AP4M1 Gene Microcephaly, AP4M1 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AP4M1 Gene Microcephaly, AP4M1 related NGS Genetic DNA Test gene AP4M1
Test Details: AP4M1 gene microcephaly is a genetic disorder characterized by a small head size (microcephaly) and intellectual disability. It is caused by mutations in the AP4M1 gene, which provides instructions for producing a protein involved in the formation of a protein complex called adaptor protein complex 4 (AP-4). The AP4M1 gene is located on chromosome 7 and is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the disorder to occur. Individuals with only one mutated copy of the gene are carriers and typically do not show symptoms.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and identify mutations that may be associated with a particular disorder. In the case of AP4M1 gene microcephaly, NGS genetic testing can be used to identify mutations in the AP4M1 gene that may be causing the disorder. NGS genetic testing typically involves obtaining a DNA sample, often through a blood sample or saliva swab, from the individual being tested. The DNA is then sequenced using high-throughput sequencing technologies, which can rapidly analyze large amounts of genetic information. The sequencing data is then compared to a reference genome to identify any mutations or variations in the AP4M1 gene.
Genetic testing for AP4M1 gene microcephaly can provide a definitive diagnosis for individuals with suspected or confirmed symptoms of the disorder. It can also be used for carrier testing in individuals with a family history of the disorder or in populations with a higher prevalence of the condition. It is important to note that genetic testing for AP4M1 gene microcephaly may not be available in all regions or healthcare settings. It is recommended to consult with a healthcare professional or genetic counselor to determine the availability and appropriateness of genetic testing for this condition.
Test Name | AP4M1 Gene Microcephaly AP4M1 related 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 AP4M1 Gene Microcephaly, AP4M1 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AP4M1 Gene Microcephaly, AP4M1 related NGS Genetic DNA Test gene AP4M1 |
Test Details |
AP4M1 gene microcephaly is a genetic disorder characterized by a small head size (microcephaly) and intellectual disability. It is caused by mutations in the AP4M1 gene, which provides instructions for producing a protein involved in the formation of a protein complex called adaptor protein complex 4 (AP-4). The AP4M1 gene is located on chromosome 7 and is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the disorder to occur. Individuals with only one mutated copy of the gene are carriers and typically do not show symptoms. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and identify mutations that may be associated with a particular disorder. In the case of AP4M1 gene microcephaly, NGS genetic testing can be used to identify mutations in the AP4M1 gene that may be causing the disorder. NGS genetic testing typically involves obtaining a DNA sample, often through a blood sample or saliva swab, from the individual being tested. The DNA is then sequenced using high-throughput sequencing technologies, which can rapidly analyze large amounts of genetic information. The sequencing data is then compared to a reference genome to identify any mutations or variations in the AP4M1 gene. Genetic testing for AP4M1 gene microcephaly can provide a definitive diagnosis for individuals with suspected or confirmed symptoms of the disorder. It can also be used for carrier testing in individuals with a family history of the disorder or in populations with a higher prevalence of the condition. It is important to note that genetic testing for AP4M1 gene microcephaly may not be available in all regions or healthcare settings. It is recommended to consult with a healthcare professional or genetic counselor to determine the availability and appropriateness of genetic testing for this condition. |