Whole Blood (preferred sample type): 1 FULL vacutainer with ACD A or B, EDTA, or Heparin (ACD is preferred but not required)
Buccal swabs: Collect two foam-tipped swabs prior to food or drink, or after thoroughly rinsing mouth with water.
[Preferred swab: Puritan cat. no. 25-1506 1PF. Available from Andwin Scientific at 951.674.5646 for distribution information.]
Buccal Swab: Collect 2 buccal swabs from inside of cheek prior to food or drink. If not possible, rinse mouth thoroughly with water prior to swabbing.Collect buccal swab samples by brushing the inside surface of 1 cheek with moderate pressure, approximately 20 times. Repeat this process with a second swab on the opposite cheek. Clearly label the sterile swab sleeve with collection date, the patient's first and last name, and patient ID number or birth date. Return swabs to sterile packaging, seal with tape.
Minimum volume: 1mL whole blood or 2 buccal swabs
Buccal Swab: Place swabs in sterile packaging, seal with tape, and ship samples in a padded envelope at room temperature.
Blood: Send blood Priority Overnight via FedEx and in a well insulated container on an ice pack. Specimen must be received in the laboratory within 24 hours of collection.
Deficiency of the second component of complement, C2, is one of the most common complement deficiencies, occurring in 1 in 10,000 individuals in the Caucasian population. This assay detects a 28 base pair deletion (rs9332736) within the C2 gene that leads to lack of protein production as described by Johnson, Charles A et al. 1992. Type I Human Complement C2 Deficiency. J. Biol. Chem. 267:9347-9353.
Informed Consent is required prior to completing any of the following tests. Consent must be obtained by the provider and maintained in the patient medical record. Download and print an informed consent form here.
PCR, gel electrophoresis
Within 14 days from when specimen is received in the laboratory.
Molecular Diagnostics Lab
Genetics (C2 Type 1 Deficiency);C2TYIP