GNF7 - Overview: Factor VII Deficiency, F7 Gene, Next-Generation Sequencing, Varies

Evaluating factor VII deficiency (FVIID) in patients with a personal or family history suggestive of FVIID Confirming an FVIID diagnosis with the identification of known or suspected disease-causing alterations in the F7 gene...

HCVDR - Overview: Hepatitis C Virus Genotypic Antiviral Drug Resistance, Serum

Detecting and identifying codon substitutions in the hepatitis C virus (HCV) NS3, NS5A, and NS5B genomic regions that confer resistance to current direct-acting antiviral drugs used for treatment of chronic hepatitis C infection due to HCV...

VHPV - Overview: Human Papillomavirus (HPV) Vaginal Detection with Genotyping for High-Risk Types by PCR

Detection of high-risk (HR) genotypes associated with the development of cervical cancer Aids in triaging women with abnormal Pap smear results Individual genotyping of human papillomavirus (HPV)-16 and/or HPV-18 if present Results of...

AFXN - Overview: Friedreich Ataxia, Repeat Expansion Analysis, Varies

Molecular confirmation of clinically suspected Friedreich ataxia

RETZZ - Overview: Multiple Endocrine Neoplasia Type 2 Syndrome, RET, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of a multiple endocrine neoplasia type 2 (MEN2) or Hirschsprung disease (HSCR) Establishing a diagnosis of MEN2 or HSCR allowing for targeted cancer surveillance based on...

PWAS - Overview: Prader-Willi/Angelman Syndrome, Molecular Analysis, Varies

Confirmation of diagnosis in patients suspected of having either Prader-Willi syndrome (PWS) or Angelman syndrome (AS) based on clinical assessment or previous laboratory analysis Prenatal diagnosis in families at risk for PWS or AS

HCQ - Overview: Hydroxychloroquine, Serum

Monitoring serum hydroxychloroquine concentrations, assessing compliance, and adjusting dosage in patients

LAPYP - Overview: Lactate Pyruvate Panel, Plasma

Diagnosing and monitoring patients with lactic acidosis Monitoring lactate-to-pyruvate ratios

OROT - Overview: Orotic Acid, Random, Urine

Evaluation of the differential diagnosis of hyperammonemia and hereditary orotic aciduria Sensitive indicator of ornithine transcarbamylase (OTC) activity after administration of allopurinol or a protein load to identify OTC carriers

AGABS - Overview: Alpha-Galactosidase, Blood Spot

Diagnosis of Fabry disease in male patients using blood spot specimens Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease Follow-up to an abnormal newborn screen...