Surfactant Protein C

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Surfactant Protein C Deficiency
Gene:		SFTPC
Test:		Direct mutation analysis by gene sequencing of the coding regions of SFTPC.
CPT Codes:		83891 x 1 83898 x 5 83904 x 10 83909 x 10 83912 x 1
Sensitivity:		SP-C deficiency accounts for approximately 2% of neonatal lung disease. In adults and older children, mutations are identified in 15-32% of individuals with alveolar proteinosis or interstitial pneumonitis. Full sequencing should detects 99% of mutations.
Cost:		$782
Turn Around Time:		Approximately 4 weeks
Special Considerations:		Clinical history on affected individual is requested; Pedigree required.