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New Tests


September 2015


New tests are continually developed by the clinical and research laboratories of Mayo Clinic. These tests are subjected to an intense laboratory and clinical correlative process to ensure their diagnostic utility prior to their release.

Significant new test announcements are included with each Communiqué issue to provide both clinical and technical information in a single document.

The following tests are described in this month's Communiqué:

FLCNZ / Birt-Hogg-Dube Syndrome, Full Gene Analysis

  • Useful for: Genetic diagnosis of Birt-Hogg-Dube syndrome for clinical management, risk
    assessment for related clinical symptoms, and genetic counseling for family members ....more>>

CMAPC / Chromosomal Microarray, Autopsy, Products of Conception, or Stillbirth

  • Useful for: Prenatal diagnosis of copy number changes (gains or losses) across the entire genome ...more>>

CMAPT / Chromosomal Microarray, Tumor, FFPE

  • Useful for: Genomic characterization of tumor for copy number imbalances and loss of heterozygosity ...more>>

CMAT / Chromosomal Microarray, Tumor, Fresh or Frozen using Affymetrix Cytoscan HD

  • Useful for: Genomic characterization of tumor for copy number imbalances and loss of heterozygosity ...more>>

DBMD / Duchenne/Becker Muscular Dystrophy DMD Gene, Large Deletion and Duplication Analysis

  • Useful for: Confirmation of a clinical diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD  ...more>>

FMTT / Familial Mutation, Targeted Testing

  • Useful for: Diagnostic or predictive testing for specific conditions when 1 or more mutations have been identified in a family member ...more>>

FGF1F / FGFR1 (8p11.2) Amplification, FISH, Tissue

  • Useful for: Providing prognostic information and guiding treatment primarily for patients with squamous cell carcinoma of the lung, breast, esophagus, thymus, and other locations ...more>>

UVEAL / GNAQ/GNA11 Mutation Analysis, Uveal Melanoma

  • Useful for: Aiding in the diagnosis of uveal melanoma and targeting therapeutic approaches ...more>>

PLACA / Lipoprotein-Associated Phospholipase A2 Activity, Serum

  • Useful for: Identifying persons at increased risk for coronary heart disease events ...more>>

MDM2F / MDM2 (12q15) Amplification, Well-Differentiated Liposarcoma/Atypical Lipomatous Tumor, FISH, Tissue

  • Useful for: Supporting a diagnosis of well-differentiated liposarcoma/atypical lipomatous tumor ...more>>

MEDF / Medulloblastoma, FISH, Tissue

  • Useful for: Identifying MYCN amplification, MYC amplification, and monosomy of chromosome 6 (detected using MYB probe), to aid in the classification of medulloblastoma patients into specific clinical categories ...more>>

MEFVZ / MEFV Gene, Full Gene Analysis

  • Useful for: Confirmation of familial Mediterranean fever (FMF) for patients with clinical features ...more>>

METF / MET (7q31), FISH, Tissue

  • Useful for: Providing prognostic information and guiding treatment primarily for patients with lung, gastric, and renal tumors as well as other tumor types ...more>>

MGMT / MGMT Promoter Methylation, Tumor

  • Useful for: Prognostication of newly diagnosed glioblastomas ...more>>

NGSHM / OncoHeme Next Generation Sequencing (NGS), Hematologic Neoplasms

  • Useful for: Evaluation of hematologic neoplasms at the time of diagnosis, to assist in appropriate classification and prognosis ...more>>

PLA2R / Phospholipase A2 Receptor Antibodies, Serum

  • Useful for: Distinguishing primary from secondary membranous nephropathy ...more>>

63036 / Phospholipase A2 Receptor (PLA2R) Immunofluorescent Stain, Renal

  • Useful for: Distinguishing primary membranous nephropathy from secondary membranous nephropathy ...more>>

PRSSZ / PRSS1 Gene, Full Gene Analysis

  • Useful for: Confirmation of suspected clinical diagnosis of hereditary pancreatitis (HP) in patients with chronic pancreatitis ...more>>

RUFI / Rufinamide, Serum

  • Useful for: Monitoring serum rufinamide concentrations, assessing compliance, and adjusting dosage in patients receiving other drugs which interact pharmacokinetically with rufinamide (ie, drugs that induce liver CYP3A4 enzymes) and may be helpful in who are receiving hemodialysis ...more>>

TNFRZ / TNFRSF1A Gene, Full Gene Analysis

  • Useful for: Confirmation of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) for patients with clinical features ...more>>

 


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