Primary Hyperoxaluria Mutation Genotyping
| Status: | Recruiting |
|---|---|
| Conditions: | Urology |
| Therapuetic Areas: | Nephrology / Urology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 11/8/2014 |
| Start Date: | December 2003 |
| End Date: | December 2020 |
| Contact: | Barbara Seide |
| Email: | hyperoxaluriacenter@mayo.edu |
| Phone: | 507-255-0387 |
Correlation of Disease Expression With Specific Genetic Mutations in Primary Hyperoxaluria
This study will help us determine whether certain genetic mutations, more than others, are a
cause of more severe disease in Primary Hyperoxaluria.
cause of more severe disease in Primary Hyperoxaluria.
During your study visit, we will draw one tube, about two teaspoonfuls (1 to 1 ½ teaspoons
for children), of blood from your arm to obtain white blood cells. These white blood cells
will be used as a source of DNA for genetic testing. We will use the isolated DNA to try to
identify the gene that is defective in Primary Hyperoxaluria by comparing it with the
structure of genes in normal individuals, patients with Primary Hyperoxaluria, and family
members of Primary Hyperoxaluria patients. In family members of primary hyperoxaluria
patients, a 24 hour urine test may also be collected.
for children), of blood from your arm to obtain white blood cells. These white blood cells
will be used as a source of DNA for genetic testing. We will use the isolated DNA to try to
identify the gene that is defective in Primary Hyperoxaluria by comparing it with the
structure of genes in normal individuals, patients with Primary Hyperoxaluria, and family
members of Primary Hyperoxaluria patients. In family members of primary hyperoxaluria
patients, a 24 hour urine test may also be collected.
Inclusion Criteria:
- You have been diagnosed, or you are in the process of being diagnosed Primary
Hyperoxaluria
- You have a family member diagnosed with Primary Hyperoxaluria
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