Test Type: Kit Based, Buccal Swab

Overview:

Graves’ Disease is an autoimmune disease of the thyroid gland. It is characterized by hyperthyroidism associated with goiter, heart palpitations, bulging eyes, sweating, heat intolerance, tremor, anxiety and weight loss. The immunological response in Graves’ Disease comprises diffuse lymphocyte infiltration into the thyroid gland with thyroid stimulating immunoglobulin (TSI) autoantibody production. The hyperthyroidism is caused by activation of the thyroid stimulating hormone receptor (TSHR) by binding of autoantibodies.

Clinical Utility

The most strongly associated gene implicated in Graves’ disease is HLA-DRB1*03:01. Diagnosis is based on thyroid function tests as well as biochemical and clinical manifestations of hyperthyroidism rather than on genetic testing. Genetic testing does however contribute to a better understanding of the origin of the disease for improved diagnosis and treatment.

Collection Details:

Collection Instructions:

1. Please fill out all sections of the requisition form provided in your kit.

2. Rinse your mouth with cold water before you begin collecting your sample and then swallow to remove excess saliva.

3. Open one swab at a time and collect the sample by rubbing the swab on the inside of your cheek about 20 times or for 15-20 seconds in a circular motion. Swab firmly so that the cheek is pushed outward.

4. Dry the swab by shaking it in the air for 10-20 seconds.

5. Place the dried swab back in its original sleeve.

6. Use the other cheek for the next swabs. Repeat the same process for the rest of the swabs.  Collect sample on all 3 swabs.

6. Place the swab sleeves containing the dry swabs and Requisition Form in the Kashi paper envelope included in the kit.

7. [Important] Sign and fill in your name and date of sample collection on the envelope.

 

 

8. Ship the test kit back to the laboratory using the shipping mailer provided.