Any disorder or disease that is the result of genetic mutation is a genetic disorder. It is the impact of the genetic abnormalities that get transferred from generations through DNA. Although DNA mutation in the DNA analysis lab report does not guarantee fate, it might increase the probability of the genetic disorder. Early diagnosis and counselling by experts could be helpful.
So, why wait? Let's start with the most common genetic disorders that transfer via DNA mutations.
Down Syndrome
Generally, the nucleus of a human cell contains 23 chromosomes, but in the case of Down Syndrome, the 21st chromosome is copied to a cluster of cells or all the cells. To diagnose Down Syndrome medical practitioners and physicians perform in-depth screening by taking samples of the blood from parents and detecting the quantities of chromosomal material and other substances.
The tests thus determine the probability of down syndrome in the newborn. People with down syndrome exhibit varying levels of mild to severe cognitive delays.
Cystic Fibrosis
A chronic genetic disorder that leads the person to produce mucus inhibiting their respiratory, digestive and reproductive systems. Cystic Fibrosis is less likely to get inherited by the child (25% rate) and only when the mother and father of the child have the same genetic mutation. The probability of the disease is extremely less as 95% of males with Cystic Fibrosis are sterile and the median age for survival for the patients is 33 years approx.
Thalassemia
Thalassemia is a genetic condition in which the patient’s body cannot produce the same amount of hemoglobin as a normal person. Just like Cystic Fibrosis, there is only a 25% chance that the child will bear Thalassemia only if both parents carry forward the Thalassemia gene. Thalassemia gene is witnessed in Southeast Asians, Middle Eastern, Mediterranean and North African descents.
Sickle Cell Anemia
Sickle Cell Anemia is a lifelong genetic disorder in which the RBCs that are usually in a circular doughnut shape change to sickle cells. The condition is transferred to the child if both the parents show genetic mutations for Sickle Cell Anemia.
Tay-Sachs disease
Tay-Sachs disease is caused by a genetic condition very much like Down Syndrome. The disease results from the defect found in chromosome #15. The disease is irreversibly fatal and can destroy the nervous system causing death by the age of five. Tay-Sachs disease can be determined either with enzyme assay methods or via complete DNA studies.
Conclusion
DNA testing is a dynamic and ever-evolving field. Thankfully, we have done enough advancements to detect the possibilities of the above-mentioned diseases caused due to genetic mutations. The Carlson Company facilitates the complete tests with detailed forensic DNA reports accompanied by DNA counselling as and when needed.
Reference - List Of Genetic Disorders Caused By DNA Mutations
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