DMDZ - Overview: DMD Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with Duchenne muscular dystrophy and Becker muscular dystrophy Identifying variants within DMD known to be associated with Duchenne muscular dystrophy or Becker muscular dystrophy, allowing...
MUGS - Overview: Hexosaminidase A, Serum
Second-order test for diagnosing the B1 variant of Tay-Sachs disease This test is not useful for testing for Sandhoff disease.
H2MT - Overview: HER2 Amplification, Miscellaneous Tumor, FISH, Tissue
Guiding cancer therapy, as patients with HER2 amplification may be candidates for therapies that target the human epidermal growth factor receptor 2 (HER2) protein (eg, trastuzumab [Herceptin], pertuzumab) Confirming the presence of HER2...
INTAD - Overview: Adalimumab Panel, Interpretation
Interpretation of therapeutic drug monitoring of adalimumab concentration and antibody levels
MPS1Z - Overview: Hurler Syndrome, Full Gene Analysis, Varies
Identifying variants within the IDUA gene Confirmation of a diagnosis of mucopolysaccharidosis type I (MPS-I) Carrier testing when there is a family history of MPS- I, but disease-causing variants have not been previously identified
CHRAF - Overview: Chromosome Analysis, Amniotic Fluid
Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements
Diagnosis of inflammatory demyelinating diseases (IDD) with similar phenotype to neuromyelitis optica (NMO) spectrum disorder (NMOSD), including optic neuritis (single or bilateral) and transverse myelitis Diagnosis of autoimmune myelin...
Simultaneous detection and differentiation of SARS-CoV-2 (cause of COVID-19), influenza A virus, and influenza B virus in upper or lower respiratory tract specimens from individuals with flu-like illnesses
JHERF - Overview: HER2 Amplification Associated with Breast Cancer, FISH, Breast Primary, Tissue
As a predictive and therapeutic marker for patients with both node-positive or node-negative primary and metastatic breast cancer Confirming the presence of HER2 amplification in cases with 2+ (low level) or 3+ (high level) HER2...
SLL - Overview: Small Lymphocytic Lymphoma, FISH, Tissue
Recurrent common chromosome abnormalities in patients with small lymphocytic lymphoma (SLL) Distinguishing patients with 11;14 translocations who have mantle cell lymphoma (MCL) from patients who have SLL Detecting patients with atypical...