FASTKD1
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000535606.1
- Last updated: 2016-06-17
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Hereditary disease
Offered by Fulgent Clinical Diagnostics Lab
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.FASTKD1
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation
Click Indication tab for more information.
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
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- 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)
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
- AAP, 2013Ethical and Policy Issues in Genetic Testing and Screening of Children, Pediatrics (2013) 131 (3): 620–622.
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