Procurement of Patient and Control Blood Samples for Deposit in a Cell/DNA Repository to Facilitate the Study of Disorders of Mineral Metabolism
Research information to be collected
1)Blood Samples: Two 5ml aliquots of venous blood will be collected by venipuncture from all adult participants of this study. if the participant is a child ([Less Than]14 years of age but [Greater Than]3 years of age) a single 5 ml aliquot will be obtained. if the participant is an infant 2 years or less 1 ml of blood will be obtained by finger stick. all personnel collecting specimens from the participants will be fully trained physicians, nurses or phlebotomists. in case of technical problems with venipuncture, a subject will not be asked to undergo repeat venipuncture more than twice by the same technician. With a different technician, there will be only one additional attempt to obtain a sample.
2)Buccal cell collection: as an alternative for collecting Dna cells, if the subject does not want to have blood drawn, buccal cells will be collected with a mouthwash swish in those subjects that are able to swish without swallowing the mouthwash. 10 ml of original mint Scope mouthwash will be placed in a sterile 50 ml conical tube. The subject will swish the mouthwash in their mouth 20 times and spit it back into the 50 ml conical tube. This process is to be done at least 1 hour after eating or drinking. The collected epithelial cells will be processed using a Genomic Dna Purification Kit by Gentra Systems, Minneapolis, Minnesota.
3)urine epithelial cells: as another alternative for collecting Dna cells, if the subject does not want to have blood drawn, a single 100 ml aliquot of urine will be taken from a 24 hour urine or a spot collection. The aliquot will be centrifuged at 2,000 x g for 10 minutes. The supernatant urine will be drawn off and discarded. The remaining cell pellet will be processed using a Genomic Dna Purification Kit by Gentra Systems, Minneapolis, Minnesota.
4)Tissue samples: in the event that tissue is obtained as part of the general medical standard-of-care for a patient either by surgical means or by biopsy for a condition that relates to disorders of mineral metabolism, a specimen of this tissue will be obtained for research purposes as indicated in this protocol. after standard-of-care pathology sectioning and testing has been performed on the biopsy or post-surgical specimen tissue, the tissue specimen for this study will be obtained from the remaining tissue which would otherwise be discarded. Tissue samples may also be obtained from a patient's relative that has deceased since the tissue sample was obtained from a surgical procedure or biopsy.
5)other Data used in the research: The following information concerning the donor will be maintained with the specimen: diagnosis, sex, age, race and ethnicity. any changes in the data kept in the database will be submitted for iRB review and approval. This includes clinical or genetic data.
Any patient identified with a specific disorder of mineral metabolism based on serum abnormality, urinalysis or bone densitometry measurement will be eligible to participate. Patients of all races or ethnicities will be eligible. The study will be open to patients of any age or sex. If appropriate consent is obtained from the proband of an affected family, living or deceased members from his/her family will be eligible. Healthy normal volunteers without personal or family history of disorders of mineral metabolism will eligible. Classification of a normal volunteer will be based solely on self-report of a medical history with no mineral metabolism disorders.