Anjina, a rare genetic disorder, is typically diagnosed via genetic testing. The diagnosis typically begins with a thorough physical exam and a detailed medical and family history. A physician will look for the physical signs and symptoms of Anjina, which include facial features such as an abnormally shaped head, a wide-set nose, and a flat mid-face. The physician may also ask for imaging tests, such as CT scans, MRIs, and ultrasounds, to get a better look at your child's brain and skull.
Genetic testing is the primary method for diagnosing Anjina. Tests can detect changes in the gene that causes Anjina, as well as other genetic mutations associated with the disorder. Genetic tests used to diagnose Anjina can include chromosomal analysis, gene sequencing, and gene expression profiling.
If a physician suspects Anjina, they may also order a genetic test called karyotyping, which looks for changes in the number and structure of chromosomes. They may also order a test called fluorescence in situ hybridization (FISH), which looks for any changes in the structure of genes.
If a doctor suspects Anjina, they may also order a test called gene sequencing, which looks for changes in the sequence of DNA. This test can identify gene mutations associated with Anjina.
Finally, a physician may order a test called gene expression profiling, which measures the expression of certain genes. This test is used to identify genetic mutations associated with Anjina.
Overall, Anjina is typically diagnosed via genetic testing, which may involve karyotyping, FISH, gene sequencing, and gene expression profiling. A physician may also request imaging tests to get a better look at a child's brain and skull.