Molecular Genetics
The rapid advancements of genetic testing technology and the exciting information gleaned from The Human Genome Project greatly enhance the diagnostic capabilities of clinical genetic testing laboratories. The Molecular Genetics Laboratory at Mayo Clinic has embraced this forward progress and, as a result, is able to offer a broad selection of tests in 3 general categories:
- Congenital inherited diseases:
- Alpha-1-antitrypsin gene analysis
- Alpha-thalassemia
- Apolipoprotein E
- Beckwith-Wiedemann syndrome (BWS)
- Cystic fibrosis (CF)
- Dentatorubral-pallidoluysian atrophy (DRPLA)
- Fragile X syndrome
- Frontotemporal dementia (MAPT gene sequencing)
- Hemophilia A
- Hereditary hemochromatosis
- Hereditary pancreatitis (cationic trypsinogen gene)
- Prader-Willi/Angelman syndrome
- Specimen identification
- Spinobulbar muscular atrophy (SBMA)/Kennedy’s disease
- Transthyretin associated familial amyloidosis
- Uniparental disomy
- Y-Chromosome microdeletion
- Zygosity determination
- Inherited cancer syndromes:
- Familial adenomatous polyposis (FAP)
- Hereditary nonpolyposis colorectal cancer
(HNPCC)
- Tumor testing:
- hMLH1 hypermethylation/BRAF (V600E)
- Microsatellite instability and immunohistochemistry
- Germline testing:
- hMLH1, hMSH2, and hMSH6 sequencing and MLPA for large deletions/duplications
- Tumor testing:
- Multiple endocrine neoplasia type 2
- MYH gene analysis
- Molecular testing for biochemical disorders:
- Ashkenazi Jewish panel
- Panel includes carrier screening for: CF, canavan disease, familial dysautonomia, Gaucher, Tay-Sachs disease, Bloom, Fanconi anemia C, mucolipidosis IV, and Niemann-Pick types A and B. Each of these tests can also be ordered separately.
- Galactosemia
- Hyperoxaluria
- Alanine-glyoxylate aminotransferase (AGXT) molecular analysis for pyridoxine responsiveness
- Isovaleric acidemia (IVD)
- Medium chain acyl-CoA deficiency (MCAD)
- Niemann Pick type C (NPC)
- Short chain acyl-CoA deficiency (SCAD)
- Wilson disease
- Ashkenazi Jewish panel
The Molecular Genetics Laboratory also maintains active test development and basic research programs. The basic research program is particularly interested in the area of cancer genetics, and this translates to cutting edge clinical tests and testing algorithms for inherited cancer syndromes. The large, unique patient population of Mayo Clinic is an invaluable resource and is of significant benefit to the laboratory with regard to test validation and clinical correlation studies.
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