AHUGP - Overview: Atypical Hemolytic Uremic Syndrome (aHUS)/Thrombotic Microangiopathy (TMA) /Complement 3 Glomerulopathy (C3G) Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of atypical hemolytic uremic syndrome (aHUS), thrombotic microangiopathy (TMA), or complement 3 glomerulopathy (C3G) Establishing a diagnosis of...

CAORG - Overview: Comprehensive Marfan, Loeys-Dietz, Ehlers-Danlos, and Aortopathy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary aortic disease Establishing a diagnosis for a variety of hereditary conditions involving aortic disease or overlapping clinical...

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...

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...

GNF11 - Overview: Hemophilia C (Factor XI Deficiency), F11 Gene, Next-Generation Sequencing, Varies

Evaluating factor XI deficiency (FXID) in patients with a personal or family history suggestive of FXID Confirming an FXID diagnosis with the identification of known or suspected disease-causing alterations in the F11 gene Determining...

HPVP - Overview: Human Papillomavirus (HPV) DNA Detection with Genotyping, High Risk Types by PCR with Papanicolaou Smear Reflex, ThinPrep, Varies

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...

PSTF - Overview: Protein S Antigen, Plasma

Investigation of patients with a history of thrombosis

DHES1 - Overview: Dehydroepiandrosterone Sulfate, Serum

Diagnosis and differential diagnosis of hyperandrogenism (in conjunction with measurements of other sex steroids) An adjunct in the diagnosis of congenital adrenal hyperplasia Diagnosis and differential diagnosis of premature adrenarche

CLPMG - Overview: Phospholipid (Cardiolipin) Antibodies, IgG and IgM, Serum

The following clinical situations: -Unexplained arterial or venous thrombosis -A history of pregnancy morbidity defined as 1 or more unexplained deaths of a morphologically normal fetus beyond the 10th week of gestation, 1 or more premature...

AHUSD - Overview: Atypical Hemolytic Uremic Syndrome Complement Panel, Serum and Plasma

Detecting deficiencies in the alternative pathway that can cause atypical-hemolytic uremic syndrome, dense deposit disease, and C3 glomerulonephritis A second-tier test that aids in the differential diagnosis of thrombotic...