Test Catalog Search Results

MPS1R - Overview: Endogenous Mucopolysaccharidosis Type I (IDUA [Alpha-L-Iduronidase]) Biomarker Reflex, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type I (MPS I, decreased alpha-L-iduronidase activity) where quantitation of the glycosaminoglycans dermatan and heparan sulfate is desired...

MPS2R - Overview: Endogenous Mucopolysaccharidosis Type II (I2S [Iduronate-2-Sulfatase]) Biomarker Reflex, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type II (MPS II, decreased iduronate-2-sulfatase) where quantitation of the glycosaminoglycans dermatan and heparan sulfate is desired in...

MPS2B - Overview: Endogenous Mucopolysaccharidosis Type II (I2S [Iduronate-2-Sulfatase]) Biomarker, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type II (MPS II, decreased iduronate-2-sulfatase) Follow-up testing for evaluation of an abnormal newborn screening result for MPS II This...

SCGCT - Overview: Neisseria gonorrhoeae, Self-Collect, Nucleic Acid Amplification, Throat

Detecting Neisseria gonorrhoeae using throat swabs collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications.

SCGCV - Overview: Neisseria gonorrhoeae, Self-Collect, Amplified RNA, Vaginal

Detecting Neisseria gonorrhoeae using vaginal swabs collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications.

WAGDR - Overview: Alpha Globin Cluster Locus Deletion/Duplication, Blood

Diagnosis of alpha-thalassemia Carrier screening for individuals from high-risk populations for alpha-thalassemia This test is not useful for diagnosis or confirmation of beta-thalassemia or hemoglobinopathies.

CRUZI - Overview: Trypanosoma cruzi (Chagas) Antibody Panel, Serum

Diagnosis of chronic Trypanosoma cruzi infection (Chagas disease) using two different methods

NHEP - Overview: Hereditary Erythrocytosis Gene Panel, Next-Generation Sequencing, Varies

Evaluating an individual with JAK2-V617F negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit Providing an extensive genetic evaluation for patients...