PHA1 AR

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Pseudohypoaldosteronism 1 (PHA1), Autosomal Recessive
Gene:	SCNN1A; reflexed to SCNN1B and SCNN1G
Test:	Direct analysis of the coding sequence of SCNN1A, SCNN1B and SCNN1G.
CPT Codes:	SCNN1A: 83891 x 1 83898 x 14 83904 x 28 83909 x 28 83912 x 1	SCNN1B: 83898 x 12 83904 x 24 83909 x 24 83912 x 1	SCNN1G: 83898 x 13 83904 x 26 83909 x 26 83912 x 1
Sensitivity:	Autosomal recessive PHA1 is a rare condition, and series of patients screened for SCNN1B, SCNN1G and SCNN1A mutations have not been published. Our test panel has been designed to detect approximately 91% of reported mutations. The panel will not detect gross gene deletions (reported in two cases). Of reported mutations associated with recessive PHA1 58% occur in SCNN1A, 21% occur in SCNN1B and 21% in SCNN1G.
Cost:	SCNN1A: $1526 per individual SCNN1B: $1270 per individual SCNN1G: $1362 per individual
Turn Around Time:	Approximately 5 weeks for each gene
Special Considerations:	Phenotypic information is extremely helpful.