CFSMN - Overview: Cystic Fibrosis and Spinal Muscular Atrophy Carrier Screen Panel, Varies

Reproductive risk refinement via carrier screening for individuals in the general population for cystic fibrosis and spinal muscular atrophy. Reproductive risk refinement via carrier screening for individuals with a family history of...

ECMP - Overview: Eculizumab Monitoring Panel, Serum

Monitoring of complement blockage by eculizumab Assessing the response to eculizumab therapy Assessing the need for dose escalation Evaluating the potential for dose de-escalation or discontinuation of therapy in remission...

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...

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

SMNDX - Overview: Spinal Muscular Atrophy Diagnostic Assay, Deletion/Duplication Analysis, Varies

First-tier newborn screening for spinal muscular atrophy (SMA) Prenatal testing for SMA Diagnostic testing to confirm a suspected diagnosis of SMA

WARSQ - Overview: Warfarin Response Genotype, Varies

Identifying patients who may require warfarin dosing adjustments(3,4) including: -Patients being started on a first prescription for warfarin -Patients who have previously been prescribed warfarin and have required multiple dosing...

TRCHG - Overview: ToRCH Profile IgG, Serum

Determining immune status of individuals to the rubella virus following vaccination or prior exposure Indicating past or recent infection with Toxoplasma gondii, cytomegalovirus, or herpes simplex virus (HSV) Distinguishing between...

GAAW - Overview: Acid Alpha-Glucosidase, Leukocytes

Diagnosis of Pompe disease

WAGDR - Overview: Alpha Globin Cluster Locus Deletion/Duplication, Blood

Diagnosis of alpha-thalassemia Carrier screening for individuals from high-risk populations for alpha-thalassemia This test is not useful for diagnosis or confirmation of beta-thalassemia or hemoglobinopathies.

AN2TC - Overview: Antineuronal Nuclear Antibody Type 2 (ANNA-2) Titer, Spinal Fluid

Investigating middle-aged or older patients who present with unexplainable signs of midbrain/cerebellar/brain stem disorder and/or myelopathy, especially women with a previous history of breast cancer, and both sexes if there is a history...