Addison's Disease

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Category:

Test Type: Kit Based, Buccal Swab

Overview:

Addison’s disease is a disease of the adrenal cortex caused by autoimmune destruction of the adrenal gland with fibrosis and mononuclear cell infiltration. Symptoms become evident when more than 90% of the adrenal gland is destroyed. Addison’s disease is characterized by increased production of adrenocorticotropic hormone (ACTH) and adrenal insufficiency with reduced production of corticosteroids and androgens. Patients present with hypotension, weakness, fatigue, light headedness when standing up, anorexia, nausea, salt craving and increased melanin pigmentation of the skin.


Clinical Utility

Highest genetic risk is associated with particular Major Histocompatibility Complex (MHC) alleles, specifically Human Leukocyte Antigen (HLA)-DR3 and HLA-DR4. Genetic testing can offer 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.