Pseudohypoaldosteronism, Type 1A (PHA,
1A)
|
| 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: |
|
PHA,
1A 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 PHA, 1A).
Of reported mutations associated with PHA, 1A, 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.
|
| |