CFlike

PLEASE NOTE: Informed consent from the patient is required prior to ordering a genetic test. The DNA Diagnostic Lab's consent is located on the second page of the requisition form. There is also a patient brochure, "Things Every Patient Should Know Before Consenting to a Genetic Test", available for download.

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Non-Classic Cystic Fibrosis-Like Phenotype (Recommended only for patients who have a negative CFTR sequence result)
Gene:		SCNN1B
Test:		Direct analysis of the SCNN1B gene sequence; exons 2 through 13.
CPT Codes:		83891 x 1 83898 x 12 83904 x 24 83909 x 24 83912 x 1
Sensitivity:		Sheridan et al identified SCNN1B mutations in 2 of 20 non-classic CF patients who were CFTR sequence negative. Test sensitivity in the general population remains uncertain.
Cost:		$1342 per individual
Turn Around Time:		4 to 5 weeks
Special Considerations:		Phenotypic information is extremely helpful. Full CFTR sequencing is recommended prior to SCNN1B testing.
Reference		Sheridan et al (2005) Hum Molec Genet 14:3493