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GTR Home > Tests > CRISP1

Overview

Test name

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CRISP1

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Condition

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Click Indication tab for more information.

How to order

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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 Help: http://fulgentdiagnostics.com

Specimen source

Buccal swab
Cell culture
Isolated DNA
Peripheral (whole) blood
Saliva

Methodology

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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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Clinical utility

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Not provided

Clinical validity

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Not provided

Clinical resources

Practice guidelines

  • AAP, 2013
    Ethical and Policy Issues in Genetic Testing and Screening of Children, Pediatrics (2013) 131 (3): 620–622.

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.