PHD2 - Overview: Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing, Whole Blood

Assessing PHD2/EGLN1 in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

MPS2Z - Overview: Hunter Syndrome, Full Gene Analysis, Varies

Confirmation of a diagnosis of mucopolysaccharidosis type II (Hunter syndrome) Carrier testing when there is a family history of mucopolysaccharidosis type II (Hunter syndrome), but disease-causing variants have not been previously...

I2SB - Overview: Iduronate-2-Sulfatase, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis II (MPS II; Hunter syndrome) This test is not useful for determining carrier status for MPS II.

HAEV0 - Overview: Hemolytic Anemia Summary Interpretation

Incorporating and summarizing subsequent results into an overall interpretation for the HAEV1 / Hemolytic Anemia Evaluation, Blood

HSMBS - Overview: Hepatosplenomegaly Panel, Blood Spot

As a component of the initial evaluation of a patient presenting with hepatosplenomegaly, using dried blood spot specimens This test is not useful for the identification of carriers. This test should not be used as a monitoring tool for...