LSDGP - Overview: Lysosomal Storage Disease Gene Panel, Varies
Follow up for abnormal biochemical results and confirmation of suspected lysosomal storage disease (LSD) Establishing a molecular diagnosis for patients with LSD Identifying variants within genes known to be associated with LSD, allowing...
SNS - Overview: Supplemental Newborn Screen, Blood Spot
Presymptomatic identification of disorders to allow for early initiation of treatment and consequent improvement in the long-term prognosis of affected patients The conditions identifiable by amino acid and acylcarnitine analysis are...
TELDP - Overview: Telomere Biology Disorders Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a telomere biology disorder Establishing a diagnosis of a telomere biology disorder, allowing for appropriate management and...
Screening for infection with high-risk human papillomavirus (HPV) associated with the development of cervical cancer Individual genotyping of HPV-16 and/or HPV-18 if present This testing is intended for use in clinical monitoring and...
STER - Overview: Sterols, Plasma
Investigation of possible desmosterolosis (desmosterol reductase deficiency), cerebrotendinous xanthomatosis, lathosterolosis, sitosterolemia, sterol C4 methyl oxidase deficiency, MEND (male EBP disorder with neurologic defects) syndrome,...
2C19R - Overview: Cytochrome P450 2C19 Genotype, Varies
Identifying patients who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C19 Predicting anticoagulation response to clopidogrel
CPAVP - Overview: Copeptin proAVP, Plasma
Investigating the differential diagnosis for patients with water balance disorders, including diabetes insipidus, in conjunction with osmolality and hydration status May aid in the evaluation of cardiovascular disease in conjunction with...
Aiding in the distinction between the myeloproliferative neoplasm polycythemia vera and other secondary erythrocytosis
BAMRP - Overview: Bile Acids Malabsorption Panel, Serum and Feces
Aiding in the evaluation of patients suspected of having chronic diarrhea symptoms due to bile acid malabsorption
ATHAL - Overview: Alpha-Globin Gene Analysis, Varies
Diagnosis of alpha-thalassemia Prenatal diagnosis of deletional alpha-thalassemia Carrier screening for individuals from high-risk populations for alpha-thalassemia This test is not useful for diagnosis or confirmation of...