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TITLE:

AGGRESSIONS IN GENETIC TESTING IN ENDOCRINE SURGERY WITH OPPORTUNITIES FOR PRECISION SURGERY

AUTHORS:

Aliza Saeed *, Dilgosha Khan

ABSTRACT:

Aim: This study aims to formulate a specific arrangement for carrying out the clinical genetic testing in a Molecular diagnostic laboratory with the ultimate goal of researching aggressions in genetic testing in endocrine surgery with opportunities for precision surgery. Technique: The study had included about nine MEN-1 individuals. In the research laboratory, the individuals were grouped according to their type of disorder, age, and number. Mutations were firstly identified for each group. There were about 56 individuals tested, and then parathyroidectomy was carried out in the patients with hyperthyroidism. Every patient in the research got proper and detailed genetic consultation. Results: The genetic testing was carried out in 56 patients at risk. Patients were divided into three respective groups. Group, I contained about 25 patients with a risk of 50 percent. These were younger than 30 years. Group II included about 20 patients, with a chance of 50 percent. These were aged 30 or older. On the other hand, Group III contained about 11 patients with a risk of 25 percent. There was a positive genetic test obtained in about seven patients. Six belonged to group 1, and once belonged to group 2. Hypercalcemia was diagnosed in these patients. Moreover, parathyroidectomy was also carried out in these patients. One patient was also having the symptoms of the pancreatic tail mass lesion and pancreatic polypeptide level. Conclusion: Mostly, endocrine disorders have an inherited origin. Also, most are syndromic. Therefore, the surgeons must have a sound knowledge of the disease, its causes, and its genetic background. In this way, they will be able to save their time, cost, and carry out excellent results. Keywords: Genetic Testing, Endocrine Surgery, Precision Surgery

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