UT Genetics Center
News
New Laboratory Offerings Available through UT Genetics Center
see Molecular Laboratory Requisition Form
Female Infertility Panel:
- Fragile X Associated Premature Ovarian Failure: Approximately 1/180 females in the US are carriers of a premutation in the FMR1 gene. Twenty percent of these women will develop POF while having none of the learning disability associated with the presence of the full mutation in that same gene. Thus women with POF may be at risk of carrying the premutation gene and also be members of a family at risk for Fragile X mental retardation. Approximately 7% of all women with POF have been found to carry a premutation allele. Requires whole blood in EDTA (purple top)
- Chromosome Analysis: Infertility may be caused by the presence of chromosome rearrangements that lead to failure of egg development. Requires whole blood in sodium heparin (green top)
- Chromosome Mosaicism: This test is indicated when mosaicism, the presence of two or more cell lines with different chromosome patterns, is suspected based upon clinical findings. Infertility may be caused by mosaicism for chromosome abnormalities in a small percentage of cells that would not be detected in the usual chromosome analysis. Will use sample from chromosome analysis above
Male Infertility Panel: for males with oligospermia or azoospermia
- Y Deletion: Molecular analysis for possible deletions within the Azoospermia Factor (AZF) loci on the long arm of the Y chromosome. Mutations within this region have been associated with male infertility and several of the genes within this interval encode key spermatogenesis-related genes. NOTE: not all males with abnormal sperm production have disturbances of these genes. Requires whole blood in EDTA (purple top).
- CFTR Mutation Analysis: Congenital bilateral absence of the vas deferens is associated with the presence of mild CFTR mutations. Will use same sample as the Y deletion analysis above.
- Chromosome Analysis: Infertility may be caused by the presence of chromosome numeric abnormalities of rearrangements that lead to failure of sperm development. Requires whole blood in sodium heparin (green top).
Fragile X Associated Ataxia/Tremor: Approximately 1% of males and a smaller percentage of women presenting with late onset progressive tremor /ataxia have been found to carry a premutation in the FMR1 gene. This syndrome presents in males as early as the 5th decade and in women in the 6th decade. These symptoms progress to significant ataxia and other neurological symptoms over the next two decades. Approximately 1/400 males and 1/180 females are premutation carriers. Fifty percent of these carrier males and a much smaller percentage of carrier females will display features of this disorder by the time they are in their 7th decade. Requires whole blood in EDTA (purple top).
FLT3 and NPM1: The presence of mutation in one or both of these genes provides prognostic information useful in treatment option decisions for patients with AML who have normal cytogenetic analysis. Requires whole blood or bone marrow in EDTA (purple top).
4/20/11
Genetic Counselor Putnam Earns Board Certification
Abbey Putnam, MS, Genetic Counselor, passed the American Board of Genetic Counseling certification examination and is now a Certified Genetic Counselor (CGC). Putnam has worked for the UT Genetics Center since August 2009, seeing pediatric and adult patients. She is one of two genetic counselors, with Amanda Noyes, CGC, at the Genetics Center. When a child is diagnosed with a genetic condition, Putnam and Noyes meet with the family to discuss the condition, the inheritance risk and recurrence risk, and provide support to the family. They also counsel adults regarding family histories of genetic conditions, cancer gene susceptibility, Huntington Disease presymptomatic testing, multiple miscarriages, hemochromatosis and thrombophilia.
1/20/11
UT Genetics Center Sponsors "Bowling for Breast and Ovarian Cancer" Event
Knoxville FORCE (Facing Our Risk of Cancer Empowered) held their first event, "Bowling for Breast and Ovarian Cancer," February 26 at the Fountain Lanes Strike & Spare. The UT Genetics Center was a sponsor for this event, which was held to raise awareness of hereditary breast and ovarian cancer (HBOC). Abbey Putnam, MS, CGC, LGC attended the event and was available to answer any questions attendees had about HBOC and genetic counseling.
03/09/11
New Publication
Casey, N., Noyes, A., Bennett, A., Hunter, R and Hunter, K.L.
Inter Simple Sequence Repeats (ISSR) Reveal Genetic Variation Among Mid-Atlantic Populations of Threatened Amaranthus pumilus and Phylogenetic Relationships.
CASTANEA 2010; 75(4): 506–516
3/09/11
Genetic Counselor Putnam Earns Board Certification
Abbey Putnam, MS, Genetic Counselor, passed the American Board of Genetic Counseling certification examination and is now a Certified Genetic Counselor (CGC). Putnam has worked for the UT Genetics Center since August 2009, seeing pediatric and adult patients. She is one of two genetic counselors, with Amanda Noyes, CGC, at the Genetics Center. When a child is diagnosed with a genetic condition, Putnam and Noyes meet with the family to discuss the condition, the inheritance risk and recurrence risk, and provide support to the family. They also counsel adults regarding family histories of genetic conditions, cancer gene susceptibility, Huntington Disease presymptomatic testing, multiple miscarriages, hemochromatosis and thrombophilia.
2/11/11
UT Genetics Center featured in the January 2010 issue of the GSM Scope Newsletter.
UT Genetics Center Offers Exclusive Testing for Rare Disease
In the 1990s, testing in the UT Genetics Center Molecular Diagnostic Laboratory, in association with researchers at Johns Hopkins University School of Medicine, revealed the source of a disease similar to Huntington Disease, designated Huntington Disease-Like 2. Today, the UT Genetics Center is the only laboratory in the U.S. that offers testing for this rare disease and is one of only four testing sites worldwide.
Genetic Counselor Noyes Passes Board Exam
Amanda Noyes, MS, CGC, passed the American Board of Genetic Counseling certification examination and is now a Certified Genetic Counselor (CGC). Noyes has worked for the UT Graduate School of Medicine Genetics Center since June 2007, seeing pediatric and adult patients. When a child is diagnosed with a genetic condition, Noyes meets with the family to discuss the condition, the inheritance risk and recurrence risk, and provide support to the family. She also counsels adults regarding family histories of genetic conditions, cancer gene susceptibility, Huntington Disease presymptomatic testing, multiple miscarriages, hemochromatosis and thrombophilia.
Event Co-Sponsored by Genetics Center Features Service Dogs
The UT Graduate School of Medicine Genetics Center co-sponsored the 2009 Foundation for Genetic Technology Southeastern Regional Genetic Meeting held in Knoxville, October 23-24, reaching technologists from genetics laboratories in Alabama, Arkansas, Georgia, North Carolina, South Carolina and Tennessee.
The day-and-a-half meeting included eight scientific lectures, a "Techs on Technology" lecture and discussion, and a poster session. The participants also shared information on the local Wilderwood Service Dogs program, which provides service dogs specifically trained to handle the challenges of spectrum disorders and other neurological impairments including autism, dementia and brain injuries.
"The presentation by the Wilderwood Service program was a great addition to the meeting. Since we're all lab people, it's really neat to see what happens outside of the lab after diagnoses," said Karla Matteson, PhD, FACMG, Professor of Medical Genetics and Pathology, Co-Director of UT Genetics Center, and Director of Biochemical and Molecular Genetics Laboratory.
Medical Genetics faculty and staff presentations at the meeting included
Oral Presentations
Darla Smith, RD, MPH, LDN, Metabolic Nutritionist
"New Treatments in the Care of Patients with PKU"
Karla J. Matteson, PhD, FACMG
"Pharmacogenetics and Treatment Options in Cancer"
Bethann Ralston, BS, MT(ASCP)
"The New INFINITI Laboratory Platform: How it works"
Poster Presentation
Terri Ryan, BS, CLSP(CG), Cheri Worthington, BS, CLSP(CG), Pamela Patrick, BA, MT(ASCP), CLSP(CG) and Carmen B Lozzio, MD, FACMG
"Partial Trisomy for the 10q Subtelomere Detected by FISH"
Quick Links
The University of Tennessee Graduate School of Medicine
Division of Medical Genetics/ UT Genetics Center
UT Graduate School of Medicine
Building A, Suite 435
1930 Alcoa Highway
Knoxville, Tennessee 37920
Phone: 865.305.9030
Toll free: 1.800.325.3894
Fax: 865.305.6675