MPSBS - Overview: Mucopolysaccharidosis, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, or VI Quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in dried blood spot specimens

NTC3Z - Overview: NOTCH3 Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis in individuals with features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and NOTCH3-related disorders Identifying disease-causing variants...

TYRGP - Overview: Tyrosine Disorders Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a tyrosine disorder Establishing a molecular diagnosis for patients with tyrosine disorders Identifying variants within genes known to be associated with tyrosine disorders,...

BRTP - Overview: Rapid Hereditary Breast Cancer Treatment Decision Panel, Varies

Establishing a diagnosis of a hereditary breast cancer syndrome allowing for surgical and management decision making Determining therapeutic eligibility with poly (adenosine diphosphate-ribose) polymerase inhibitors based on certain gene...

DHCRZ - Overview: Smith Lemli Opitz Syndrome, DHCR7 Gene, Full Gene Analysis, Varies

Follow up for abnormal biochemical results suggestive of Smith-Lemli-Opitz syndrome Establishing a molecular diagnosis for patients with Smith-Lemli-Opitz syndrome Identifying alterations within DHCR7 allowing for predictive testing of...

GNPRC - Overview: Protein C Deficiency, PROC Gene, Next-Generation Sequencing, Varies

Evaluating protein C deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming a diagnosis of autosomal dominant protein C deficiency with the identification of a known or suspected...

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

3MGAP - Overview: 3-Methylglutaconic Aciduria Panel, Varies

Follow up for abnormal biochemical results suggestive of 3-methylglutaconic aciduria (3-MGA) Establishing a molecular diagnosis for patients with 3-MGA Identifying variants within genes known to be associated with3-MGA, allowing for...

BRBPS - Overview: Broad Range Bacterial PCR and Sequencing, Varies

Detecting and identifying bacteria (including mycobacteria) from normally sterile sources, including synovial fluid; body fluids such as pleural, peritoneal, and pericardial fluids, cerebrospinal fluid; and both fresh and formalin-fixed...

SCARA - Overview: Spinocerebellar Ataxia Type 1, 2, 3, 6, or 7, Repeat Expansion Analysis, Varies

Diagnostic or predictive testing when clinical symptoms or a family history are specific to only one type of spinocerebellar ataxia