Test Code 8965
Congenital Central Hypoventilation Syndrome (CCHS) via the PHOX2A Gene
PHOX2A
N/A
Who is this test for? | Individuals who are clinically suspected or diagnosed with CCHS. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in PHOX2A. |
Method | Sequencing with CNV PGxome |
Specimen(s) | Blood, Saliva, or Buccal Swab |
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