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Cystic Fibrosis, Full CFTR gene sequencing

Item Value
Approval req'd? Yes, Approval by Laboratory Medicine is required. Test is only performed after in-house CF testing (MCFM) is complete and failed to demonstrate an abnormality.
Available Stat? No
Test code MOLT (Order in Apex as 'Miscellaneous Outside Lab Test' using the complete test name above)
Test group Cystic Fibrosis
Performed by Integrated Genetics
Sendout? Yes
Method DNA sequencing
Container type Lavender top
Amount to Collect 3 mL blood
Sample type EDTA whole blood
Preferred volume 3 mL blood
Min. Volume 0.5 mL blood
Processing notes Note: This test requires approval by Laboratory Medicine physician (x31469)and will only be sent out after the in-house CF mutation test (MCFM) has been performed.
Normal range No mutation detected
Turn around times 2-3 weeks
Additional information CF gene sequencing detects approximately 98% of the over 1,300 disease-causing mutations that have been identified in the CFTR gene1. Genzyme Genetics' full CF gene sequencing test is direct sequence analysis of the CFTR gene, identifying every nucleotide of all 27 exons, their associated splice site regions and clinically-relevant regions of introns that contain disease-causing mutations. We also offer partial CF gene sequencing for families with known mutations not detectable in a general screening assay.

When mutation analysis test results are negative, or for known familial mutations not detectable by current mutation panels, indications for full or partial CFTR gene sequencing include patients affected with classic CF symptoms, atypical CF symptoms, idiopathic chronic pancreatitis, congenital bilateral absence of the vas deferens (CBAVD); and carrier prenatal testing for parents of an affected CF child, individuals with a family history of CF and couples with identified mutations.
CPT coding 81223-90, 83898-90, 83909-90
Last Updated 2/20/2014 3:04:12 PM
Entry Number 288
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