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...
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
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...
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
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...
HIQNP - Overview: HIV-1 RNA Detection and Quantification, Prenatal, Plasma
Diagnosis of HIV-1 infection in pregnant individuals with acute or early HIV-1 infection Quantifying plasma HIV-1 RNA levels (viral load) in pregnant individuals living with HIV-1: -Before initiating anti-HIV-1 drug therapy (baseline viral...
IDTRT - Overview: IDH1, IDH2, and TERT Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the IDH1 and IDH2 genes and the TERT promoter to assist in tumor diagnosis/classification
PSHIV - Overview: HIV-1 RNA Patient Source, Plasma
Detection and diagnosis of HIV-1 infection in an acutely or early infected individual (including infants of <2 years of age) who is the source of blood or body fluid in an occupational exposure event