SRYF - Overview: Sex-Determining Region Y, Yp11.3 Deletion, FISH
Detecting the deletion or addition of the SRY gene in conjunction with conventional chromosome studies
WNDZ - Overview: Wilson Disease, ATP7B Full Gene Sequencing with Deletion/Duplication, Varies
Confirming the diagnosis of Wilson disease
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
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...
Evaluating patients with suspected stiff-person syndrome (classical or focal forms, such as stiff-limb or stiff-trunk) and progressive encephalomyelitis with rigidity and myoclonus using serum specimens
TCRB - Overview: T-Cell Receptor V-Beta Repertoire Analysis, Spectratyping, Blood
Assessment of T-cell receptor diversity in various clinical contexts including inborn errors of immunity (formerly primary immunodeficiencies), monitoring immune reconstitution post-hematopoietic stem cell transplantation, and temporal...
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
Providing a genetic evaluation for patients with a personal or family history of steroid resistant nephrotic syndrome (SRNS) Establishing a diagnosis of hereditary SRNS Guiding treatment decisions in individuals with nephrotic syndrome
AGDD - Overview: Alpha Globin Cluster Locus Deletion/Duplication, Varies
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.
ADALP - Overview: Adalimumab Quantitative with Antibody, Serum
Therapeutic drug monitoring of adalimumab concentration and antibody levels
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