BTDZ - Overview: Biotinidase Deficiency, BTD Full Gene Analysis, Varies
Second-tier test for confirming biotinidase deficiency (indicated by biochemical testing or newborn screening) Carrier testing of individuals with a family history of biotinidase deficiency, but disease-causing mutations have not been...
JAK2M - Overview: JAK2 V617F Mutation Detection, Bone Marrow
Aiding in the distinction between a reactive blood cytosis and a chronic myeloproliferative disorder using bone marrow specimens
VWAG - Overview: von Willebrand Factor Antigen, Plasma
Diagnosis of von Willebrand disease (VWD) and differentiation of VWD subtype (in conjunction with von Willebrand factor ristocetin cofactor activity and factor VIII coagulant activity) Differentiation of VWD from hemophilia A (in...
Q10 - Overview: Coenzyme Q10, Reduced and Total, Plasma
Diagnosis of primary coenzyme Q10 (CoQ10) deficiencies in some patients who are not supplemented with CoQ10 Diagnosis of CoQ10 deficiency in mitochondrial disorders Monitoring CoQ10 status during treatment of various degenerative...
IL6DX - Overview: Interleukin-6, Serum
Evaluating patients with suspected chronic inflammatory disorders, such as rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis, or inflammatory bowel disease Evaluating patients with Castleman disease Evaluating...
C1INF - Overview: C1 Esterase Inhibitor, Functional, Serum
Diagnosing hereditary angioedema Monitoring response to C1 esterase inhibitor replacement therapy
PSAU - Overview: Prostate-Specific Antigen (PSA) Ultrasensitive, Serum
As an aid in the detection of prostate cancer when used in conjunction with a digital rectal exam in men ages 50 years and older To aid in the prognosis and management of individuals diagnosed with prostate cancer Monitoring disease after...
TRCHG - Overview: ToRCH Profile IgG, Serum
Determining immune status of individuals to the rubella virus following vaccination or prior exposure Indicating past or recent infection with Toxoplasma gondii, cytomegalovirus, or herpes simplex virus (HSV) Distinguishing between...
Evaluating for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and related demyelinating peripheral neuropathies
PDBS - Overview: Pompe Disease, Blood Spot
Evaluating patients with a clinical presentation suggestive of Pompe disease (muscle hypotonia, weakness, or cardiomyopathy) outside of the newborn screening setting