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Test Catalog

NHHA - Overview: Hereditary Hemolytic Anemia Gene Panel, Next-Generation Sequencing, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hemolytic anemias, including red blood cell (RBC) membrane/hydration disorders, RBC enzymopathies, and congenital...

QNKS - Overview: Natural Killer (NK)/Natural Killer T-Cell Subsets, Quantitative, Blood

Quantitation of the major natural killer (NK)-cell subsets relative to total NK cells (NK cell subsets) or total lymphocytes (NK T cells) Assessment in the following clinical contexts: HIV, primary immune deficiencies with NK cell...

TTBS - Overview: Testosterone, Total and Bioavailable, Serum

Recommended second-level test for suspected increases or decreases in physiologically active testosterone: -Assessment of androgen status in cases with suspected or known sex hormone-binding globulin binding abnormalities -Assessment of...

GPSYW - Overview: Glucopsychosine, Blood

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using whole blood specimens Supporting the biochemical diagnosis of...

MBLF - Overview: Mannan Binding Lectin Complement Pathway, Functional, Serum

Investigating recurrent meningococcal disease in young children Investigating recurrent or severe infections in adults Investigating glomerular kidney diseases Additionally, deficiencies or dysregulation within the complement system may...

CDGN - Overview: Congenital Disorders of N-Glycosylation, Serum

Screening for N-linked congenital disorders of glycosylation Providing information on specific structural oligosaccharide abnormalities to potentially direct further genetic testing

HSMP - Overview: Hepatosplenomegaly Panel, Plasma

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

GPSYP - Overview: Glucopsychosine, Plasma

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using plasma specimens Supporting a biochemical diagnosis of Gaucher...

Site Search

Second-Tier Assay for MPS I Newborn Screening Shows Remarkable Reduction of False Positives - Insights...

Mucopolysaccharidosis type I (MPS I) is a rare genetic disorder that typically presents with progressive multisystem involvement in early childhood. This condition results from the deficiency of the enzyme...

webinar on implementation of high-sensitivity troponin I assay - Insights

Cardiovascular Diseases, will be presenting a webinar on the implementation of a high-sensitivity troponin I assay. The webinar will be held February 13 from 1:00-2:00 p.m. eastern....

Should I Stay or Should I Go? - Insights

In this episode of “Lab Medicine Rounds,” host Justin Kreuter, M.D., and Rondell Graham, M.B.B.S., delve into the critical decisions involved in contemplating a role on the staff at the institution where you receive your training.

often oversimplified & misunderstood technology--Part I

In the last decade, genetic testing has evolved from single-gene Sanger based assays to much more complex next-generation sequencing (NGS) based assays.

inform novel treatments for kidney stones - Part I - Insights

A collaborative study between Mayo Clinic and the University of Illinois debunked the previous consensus about how kidney stones grow.