Primary Hyperoxaluria Mutation Genotyping/Phenotyping

During your study visit, we will draw one tube, about two teaspoons (1 to 1 ½ teaspoons for
children), of blood from your arm. White blood cells from the sample will be used as a source
of DNA for genetic testing. We will use the DNA to try to identify mutations (changes) in one
of the genes that can cause primary hyperoxaluria. This will be done by comparing it with the
structure of these genes in normal individuals, patients with primary hyperoxaluria, and
family members of primary hyperoxaluria patients. In family members of primary hyperoxaluria
patients, a 24 hr urine test may also be collected.

Inclusion Criteria:

- Ages birth to 99 years in whom clinical information is available from medical records

- Patients with a diagnosis of PH confirmed on previous genetic testing

- Patients with clinical suspicion of primary hyperoxaluria (elevated urine oxalate of
greater than 0.8 mmol/1.73 m2/day (>70 mg/1.73 m2/day), history of kidney stones,
and/or nephrocalcinosis documented by medical history or imaging studies

- First or second degree family members of a patient with primary hyperoxaluria

Exclusion Criteria:

- Stone formers who do not have confirmed PH and do not meet the inclusion criteria for
clinical suspicion of primary hyperoxaluria

- Unwilling or unable to provide consent/assent.