Overview
TUBB2A
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation
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Blood: (2) 4ml in EDTA (lavender top) or ACD (yellow top) tubes, or one of each; for patients less than 1 year of age, we can accept 1-2ml (minimum). This is our preferred specimen type to receive for testing. Blood specimens can be sent at ambient temperature and express delivery should be arranged such that it arrives within 72 hours from collection, otherwise, they will need to be refrigerated. Extracted DNA: 3ug DNA (preferably not from a source containing Heparin) in TE Buffer. DNA specimens can be sent at ambient temperature and express delivery should be arranged such that it arrives within 72 to 96 hours from when it was sent. Saliva / Buccal Swab: DNA Genotek OC-100 kits are preferred and can be provided upon request. (For del/dup analysis, blood samples are preferred as buccal swabs may fail to generate high quality data.) Saliva / buccal swab specimens can be sent at ambient temperature and express delivery should be arranged such that it arrives within 72 to 96 hours from when it was sent. Fresh / Frozen Tissue: 1g of sample from any of the following sources: muscle, liver, spleen, skin, lung, and placenta. (Maternal Cell Contamination study recommended for placenta samples.) Brain tissue and specimens under 1g are not recommended; they are only accepted with special circumstances and approval from a Lab Director. Fresh tissue samples may be accepted if received within 24 to 48 hours after collection and refrigeration is recommended for warm weather. Frozen tissue samples must be stored at -80 degrees Celsius immediately after collection and shipped with dry ice. (Tissue samples are very delicate and we will use our best efforts to extract quality DNA. However, the success of extraction cannot be guaranteed.)
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.: http://fulgentdiagnostics.com
Specimen source
Buccal swab
Cell culture
Isolated DNA
Peripheral (whole) blood
Saliva
- Molecular Genetics
- DDeletion/duplication analysis
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
Summary of what is tested
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information.
Not provided
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