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Genetic laboratory services include three specialized sections.
These laboratories are licensed by the state of Tennessee and federal agencies. All laboratory directors are board certified by the American Board of Medical Genetics and licensed by the state of Tennessee.
Specimens are received from local, national and international hospitals and physician’s offices. The Genetics Center laboratories offer courier service within the Knoxville area. Referring offices outside this area may use the U.S. postal service or overnight delivery services to send specimens.
 Biochemical Genetics Laboratory
This laboratory provides services in two areas of emphasis.
- Inborn errors of metabolism. Assessment for inborn errors of metabolism includes analysis of amino acid levels in serum and urine, organic acids in urine, urinary mucopolysaccharides and chloride levels in sweat. A board certified biochemical geneticist provides interpretations and suggestions for follow-up testing.
- Second trimester maternal serum screening program. Second trimester maternal serum screening for identification of pregnancies at increased risk for Down syndrome (Trisomy 21), neural tube defects and Trisomy 18.
Analysis of AFP, hCG, unconjugated estriol and Inhibin A in serum from pregnant women between 15 and 21 weeks gestation. A board certified biochemical geneticist provides interpretation of these results for the identification of pregnancies at increased risk for Trisomy 21, open neural tube defects and Trisomy 18. Amniotic fluid AFP and acetyl cholinesterase analyses also are provided as appropriate.
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 Cytogenetic Laboratory Services
This laboratory performs chromosome analysis and molecular cytogenetic (FISH) based analysis on peripheral blood, bone marrow, amniotic fluid, chorionic villi, skin, solid tumors, paraffin sections and other specimen types. High resolution prometaphase, FISH studies and other advanced techniques also are available. A board certified cytogeneticist provides interpretation and recommendations for further studies.
Chromosomal analysis and molecular FISH studies are used in the evaluation of many potential genetic conditions, including the following.
- Individuals with a personal or family history of chromosomal aberrations, mental retardation, congenital anomalies or failure to thrive
- Individuals with ambiguous genitalia or disorders of sex differentiation
- Products of conception
- Diagnosis and prognosis for leukemia, other hematological malignancies and solid tumors
- Prenatal evaluation of pregnancies that qualify as advance maternal age
- History of multiple miscarriages
The capability to analyze specimens for cytogenetic abnormalities connected to many disorders changes rapidly. Contact the Genetic Center's cytogenetic laboratory for information regarding the most current capabilities of this laboratory.
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 Molecular Genetic Laboratory
This laboratory provides DNA-based analysis for diagnosis and carrier status identification for a variety of disorders that include the following.
- Cystic fibrosis
- Fragile X syndrome
- Hereditary hemochromatosis
- Thrombotic risk
- Factor V Leiden
- Prothrombin
- MTHFR
- Plasminogen activator inhibitor
- Huntington disease
- Y deletion in infertility
- Prader Willi disorder
- Angelman syndrome
- BCR/ABL rearrangement in leukemia
- JAK2 mutation in polycythemia vera and related disorders
Interpretations and recommendations are provided by a board certified molecular geneticist.
The capability to analyze specimens for molecular mutations connected to genetic disorders changes rapidly. Contact the Genetics Center's molecular laboratory for information regarding the currently available tests.
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