Joubert Syndrome Panel

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation

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Click Indication tab for more information.

Blood: (1) 3-5ml in EDTA (lavender top tube); for patients under 1 year of age, we accept 1-2ml (minimum). Blood is our preferred specimen type to receive for testing. Blood Specimens should be received within 72 hours of collection if possible – maximum five days. Store specimen at ambient room temperature or refrigerate until you send; do not freeze. Extracted DNA: 10ug DNA. DNA specimens can be sent at ambient temperature and express delivery should be arranged such that it arrives within 72 to 5 days from collection. Saliva: Contact the lab directly at 503-227-3179 to confirm whether a saliva sample is suitable for the test you wish to order. MVL can mail collection kits and return packaging and labels. Kits are priced ‘at cost’ at $25 per kit plus domestic shipping costs. Email requests to inquiry@mvisionlab.com to receive a quote. Please note that saliva samples alone can be inadequate for testing and the lab may reach out for additional blood and/or DNA samples. Saliva can be sent at ambient temperature and express delivery should be arranged such that it arrives within 72 to 5 days from collection. Prenatal Specimens: Amniotic Fluid – Cell Culture: Send cultured amniocytes at room temperature: two T25 flasks, filled with media for shipment. Please continue to maintain the cell culture as a backup until results are reported. Amniotic Fluid – Direct: For faster results, if you have enough fluid for both cell culture and direct, you may send two (2) samples of direct amniotic fluid, 15–20 ml each, in sterile, securely capped plastic tubes. For third trimester samples, send a total of 45–50 ml of direct fluid. Transport promptly at room temperature. Please establish a cell culture before sending direct fluid; maintain the cell culture as a backup until results are reported. If the sample size is small, the cell culture takes precedence over the direct specimen. CVS – Cell Culture: Send cultured cells at room temperature: two T25 flasks, filled with media for shipment. Please continue to maintain the cell culture as a backup until results are reported. CVS – Direct: For faster results, only if you have enough tissue for both cell culture and direct, you may send a direct CVS specimen: at least 10–15 mg of tissue in physiologic buffered saline (PBS) in a sterile, securely capped plastic container or centrifuge tube. Clean the tissue and transport promptly at room temp. Please establish a cell culture before sending direct tissue; maintain the cell culture as a backup until results are reported. If the sample size is small, the cell culture takes precedence over the direct specimen. Maternal Cell Contamination Study (MCC): We test for maternal cell contamination, test #7, with all prenatal testing – whether amnio or CVS, whether direct or cultured specimens. If a fetal sample is contaminated with maternal cells, interpretation will be inconclusive. Please provide a maternal blood sample, 2–3 ml, either before or with the fetal sample. Send a separate 4-page Order Form for the maternal sample, and include Test #7, MCC on both the maternal and fetal Order Forms. If a maternal DNA sample is already stored in our laboratory, please contact us to ask if we need an additional specimen.
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: https://www.mvisionlab.com/order-test/

Specimen source

Molecular Genetics

CSequence analysis of the entire coding region

Next-Generation (NGS)/Massively parallel sequencing (MPS)