|Test Name||Test Code||Test Type|
|Lysosomal Acid Lipase Deficiency||LIPA||Full Gene Sequencing|
|Hermansky-Pudlak Syndrome||HPS1||Full Gene Sequencing|
|Retinitis Pigmentosa 59||DHDDS||Full Gene Sequencing|
New Galactosemia Testing Strategy Reminder
Please note that the GALT Common Mutation Panel (Test Code: GD) test has been discontinued. Full gene sequencing for the GALT gene (Test Code: SG) is now being performed as a reflex in patients with deficient GALT (D/G or lower) enzyme activity. Click here for more information on the new testing strategy for Galactosemia at EGL.
Prior Authorization Reminder
When it is determined that a prior authorization is needed for testing, it will be put on a billing hold. We will notify the client as to what is required and help with any necessary paperwork, but it is ultimately their responsibility to submit this to the insurance company.