Sorted By Test Name - Mayo Medical Laboratories

FFRED
91819
FFRBS
60476
Reference Values:
T-UPTAKE
Males: 27-37%
Females: 20-37%
FREE THYROXINE INDEX
Males
3.0 suggest hyperthyroidism
Females
3.0 suggest hyperthyroidism
THYROXINE, TOTAL
Males
0-11 months: not established
1-9 years: 6.0-12.5 mcg/dL
10-23 years: 5.0-11.0 mcg/dL
> or =24 years: 5.0-12.5 mcg/dL
Females
0-11 months: not established
1-9 years: 6.0-12.5 mcg/dL
10-17 years: 5.0-11.0 mcg/dL
> or =18 years: 5.0-12.5 mcg/dL
Clinical References: 1. Whitley RJ, Meikle AW, Watts NB: Thyroid Function. In Tietz
Fundamentals of Clinical Chemistry. Fourth Edition. Edited by CA Burtis, ER Ashwood. Philadelphia,
EB Saunders Company 645-646, 1996 2. Klee GG, Hinz VS: The Ciba Corning ACS:180 Plus. In
Immunoassay Automation: An Updated Guide to Systems. Edited by DW Chan, Associated Press, New
York 63-102, 1996
Friedreich Ataxia Repeat Expansion Analysis - Unknown
Mutation
Reference Values:
A final report will be faxed under separate cover.
Test Performed By: Baylor Medical Genetics Laboratories
2450 Holcombe Blvd.
Houston, TX 77021
Friedreich Ataxia, Frataxin, Quantitative, Blood Spot
Clinical Information: Friedreich ataxia (FA) is an autosomal recessive disease affecting
approximately 1:50,000 Caucasians. The disease is clinically characterized by progressive spasticity,
ataxia, dysarthria, absent lower limb reflexes, sensory loss, and scoliosis. Hypertrophic cardiomyopathy is
present in approximately two-thirds of patients with FA and represents the most frequent cause of
premature death. Most individuals begin experiencing initial symptoms between 10 and 15 years of age,
although there are atypical late-onset forms with initial symptoms presenting after age 25. FA is caused by
mutations in the FXN gene encoding a mitochondrial protein, frataxin. Mutations in this gene lead to a
reduced expression of frataxin, which causes the clinical manifestations of the disease. Approximately
98% of individuals with FA have a homozygous expansion of the GAA trinucleotide repeat in intron 1 of
the FXN gene. The remaining 2% of FA patients have the trinucleotide expansion on 1 allele and a point
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