Test Type: Kit Based, Buccal Swab


Multiple sclerosis (MS) is an idiopathic autoimmune neurodegenerative disease in which dysregulation of the immune system causes myelin sheath degradation. Multiple sclerosis is characterized by plaques or lesions in the brain and spinal cord.  The location and size of the lesions is unpredictable. Symptoms of Multiple Sclerosis include affected coordination, balance and vision, and disturbances in the bowel, bladder and sexual organs. Disease onset is typically between the ages of 20 and 40. Women have a 2 -3 fold higher incidence of MS than men. The distribution of MS inversely parallels the global distribution of UV light, suggesting a role for vitamin D in the disease.

Clinical Utility

The main value of genetic testing in MS is to provide insights into the mechanism of the disease, thereby potentially suggesting strategies for prevention and treatment, rather than as a diagnostic tool. First degree relatives of patients with MS are generally at 20 – 40 times greater risk of developing the disease themselves, compared to the general population, showing that the disease has a large genetic component. HLA-DRB1*15:01 is a disease susceptibility gene, accounting for up to 35% of the heritability of the disease. Homozygosity for this haplotype increases disease risk six fold. The exact mechanism by which HLA increases the susceptibility to MS is unknown. A recent finding of a vitamin D response element in the promoter region of HLA-DRB1, which is completely conserved in HLA-DRB1*15:01, together with evidence showing that vitamin D is significantly lower in MS patients is suggestive of combined effects of HLA-DR15:01 inheritance and vitamin D exposure on MS risk.

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.