Friedreich Ataxia, Frataxin, Quantitative, Blood Spot
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Diagnosing individuals with Friedreich ataxia
Monitoring frataxin levels in patients with Friedreich ataxia
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Frataxin, Quant, BS
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Preferred: Whatman Protein Saver 903 Paper
Acceptable: Ahlstrom 226 Filter Paper and Supplemental Newborn Screening Card (Supply T493)
Specimen Volume: 2 blood spots
1. An alternative blood collection option for a patient >1 year of age is fingerstick.
2. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours.
3. Do not expose specimen to heat or direct sunlight.
4. Do not stack wet specimens.
5. Keep specimen dry.
Additional Information: Provide a reason for referral with each specimen.
1. 1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions.
2. 2. If not ordering electronically, submit a Biochemical Genetics Request Form (Supply T439) with the specimen.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
1 blood spot
Blood spot specimen that shows serum rings or has multiple layers
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
|Whole blood||Ambient (preferred)||30 days|
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
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 mutation or deletion on the second allele. Normal alleles contain between 5 and 33 GAA repeats. Disease-causing alleles typically range from 66 to 1,700 repeats, though the majority of individuals with FA have repeats ranging from 600 to 1,200.
Historically, FA has been diagnosed by use of a DNA-based molecular test to detect the presence of the GAA expansion. However, a molecular-based analysis is not able to effectively monitor treatment, is not amenable to multiplexing with other disease analytes, nor can it be efficiently utilized for population screening. In contrast, a protein-based assay measuring concentration of frataxin is suitable for both diagnosis as well as treatment monitoring in individuals with FA.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
Pediatric (<18 years) normal frataxin: > or =15 ng/mL
Adults (> or =18 years) normal frataxin: > or =21 ng/mL
Normal results (> or =15 ng/mL for pediatric and > or =21 ng/mL for adult patients) in properly submitted specimens are not consistent with Friedreich ataxia.
For results outside the normal reference range an interpretative comment will be provided.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
This test is not suitable for carrier detection.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Willis JH, Isaya G, Gakh O, et al: Lateral-flow immunoassay for the frataxin protein in Friedreich’s ataxia patients and carriers. Mol Genet Metab 2008;94:491-497
2. Babady NE, Carelle N, Wells RD, et al: Advancements in the pathophysiology of Friedreich ataxia and new prospects for treatments. Mol Genet Metab 2007;92:23-35
3. Boehm T, Scheiber-Mojdehkar B, Kluge B, et al: Variations of frataxin protein levels in normal individuals. Neurol Sci 2010 May 27, PubMed: 20506029
Method Description Describes how the test is performed and provides a method-specific reference
The immunoassay utilizes frataxin-specific monoclonal antibodies bound to Luminex microspheres as capture antibodies and biotinylated frataxin-specific polyclonal antibodies as detection antibodies. Streptavidin-phycoerythrin attaches to the biotin and when exposed to light at 352 nM emits a photon that is measured and that signal is used to determine the amount of frataxin in the sample. (Deutsch EC, et al: A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia. Mol Genet Metab 2010, doi:10.1016/j.ymgme.2010.07.001)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Tuesday; 8 a.m.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location The location of the laboratory that performs the test
Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.
CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
|Result ID||Reporting Name||LOINC Code|
|32249||Reason for Referral||42349-1|