Test Id : GDF15
Growth Differentiation Factor 15, Plasma
Useful For
Suggests clinical disorders or settings where the test may be helpful
A circulating biomarker in myopathy-related mitochondrial disease as well as other conditions
Investigation of patients suspected of having a mitochondrial myopathy
This assay is not suitable for carrier detection.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For information see Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
Method Name
A short description of the method used to perform the test
Enzyme-Linked Immunosorbent Assay (ELISA)
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
Growth Differentiation Factor 15
GDF15
Alpers Disease
Barth Syndrome (3-Methylglutaconic Aciduria, Type II)
Ataxia Neuropathy Syndrome (ANS)
CoEnzyme Q10 Deficiency
Complex I Deficiency
Complex II Deficiency
Complex III Deficiency
Complex IV Deficiency
Complex V Deficiency
Cytochrome C Oxidase (COX) Deficiency
Chronic Progressive External Ophthalmoplegia (CPEO)
Kearns-Sayre syndrome (KSS)
Lactic Acidosis
Leber's Hereditary Optic Neuropathy (LHON)
Leigh Disease or Syndrome
Myoclonic Epilepsy, Myopathy, Sensory Ataxia (MEMSA)
Mitochondrial encephalomyopathy lactic acidosis, and stroke-like episodes (MELAS)
Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)
Mitochondrial Recessive Ataxia Syndrome (MIRAS)
Mitochondrial Cytopathy
Mitochondrial DNA Depletion
Mitochondrial Encephalopathy
Mitochondrial Myopathy
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE)
Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP)
Pearson Syndrome
Pyruvate Carboxylase Deficiency
Pyruvate Dehydrogenase Deficiency
POLG Mutations
Respiratory Chain Defects
Sensory Ataxia, Neuropathy, Dysarthria, Ophthalmoplegia (SANDO)
Spinocerebellar Ataxia with Epilepsy (SCAE)
Mitochondrial biomarker
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For information see Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
Specimen Type
Describes the specimen type validated for testing
Plasma
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Collection Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Green top (sodium heparin)
Submission Container/Tube: Plastic vial
Specimen Volume: 0.5 mL
Collection Instructions:
1. Draw blood and centrifuge immediately.
2. Aliquot plasma into plastic vial.
3. Do not expose specimen to heat or direct sunlight.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Forms
1. Biochemical Genetics Patient Information (T602)
2. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
0.2 mL
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
| Gross hemolysis | OK |
| Gross lipemia | OK |
| Gross icterus | OK |
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Plasma | Refrigerated (preferred) | 90 days | |
| Ambient | 28 days | ||
| Frozen | 90 days |
Useful For
Suggests clinical disorders or settings where the test may be helpful
A circulating biomarker in myopathy-related mitochondrial disease as well as other conditions
Investigation of patients suspected of having a mitochondrial myopathy
This assay is not suitable for carrier detection.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For information see Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Mitochondria perform many important metabolic functions, the most vital being the production of energy in the form of adenosine triphosphate (ATP) through the electron-transport chain and the oxidative phosphorylation system, which consists of 5 complexes (complex I-V). Each of these complexes consists of 4 to 46 subunits encoded by both nuclear and mitochondrial DNA. Mitochondrial diseases are caused by defects in any of the relevant metabolic pathways and have an estimated prevalence of 1:8500. Mitochondrial diseases are varied and include mitochondrial DNA deletion syndromes such as Kearns-Sayre syndrome, mitochondrial depletion syndromes such as those caused by alterations in the TK2 and SUCLA2 or POLG and C10orf2 genes, and mitochondrial point mutation syndromes such as MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes), as well as others.
The clinical features of mitochondrial diseases vary widely and include lactic acidosis, myopathy, ophthalmoplegia, ptosis, cardiomyopathy, sensorineural hearing loss, optic atrophy, pigmentary retinopathy, diabetes mellitus, encephalomyopathy, seizures, and stroke-like episodes.
A diagnostic workup for a mitochondrial disorder may demonstrate elevations of the lactate-to-pyruvate ratio (LAPYP / Lactate Pyruvate panel, Plasma) and an elevated growth differentiation factor 15 (GDF15) level. GDF15 is a protein of the transforming growth factor beta superfamily. GDF15 is overexpressed in muscle and serum in patients with various types of mitochondrial diseases, including those with mitochondrial deletion, depletion, and point mutation syndromes. Therefore, increased levels of GDF15 can indicate the need for further investigations, including molecular studies and muscle biopsy, to confirm the presence of a possible neuromuscular mitochondrial disease.
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.
3 months* and older: < or =750 pg/Ml
*This test is not recommended for infants younger than 3 months of age due to the high levels of growth differentiation factor 15 contributed from the placenta during pregnancy.
Interpretation
Provides information to assist in interpretation of the test results
Abnormal results along with clinical findings may be suggestive of mitochondrial disease. Additional workup is indicated.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
This is a screening test for neuromuscular mitochondrial disease. Results can be elevated for other reasons including in individuals with cancer, cardiovascular disease, diabetes, and pregnancy.
Results are normally elevated in children younger than 3 months of age due to the high levels found in the placenta during pregnancy.
This test under-reports growth differentiation factor 15 plasma values in individuals with the H202D variant in GDF15.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. Poulsen NS, Madsen KL, Hornsyld TM, et al. Growth and differentiation factor 15 as a biomarker for mitochondrial myopathy. Mitochondrion. 2020;50:35-41
2. Kalko SG, Paco S, Jou C, et al. Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies. BMC Genomics. 2014;15:91
3. Sugulle M, Dechend R, Herse F, et al. Circulating and placental growth-differentiation factor 15 in preeclampsia and in pregnancy complicated by diabetes mellitus. Hypertension. 2009;54(1):106-112
4. Yatsuga S, Fujita Y, Ishii A, et al. Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders. Ann Neurol. 2015;78(5):814-823
5. Fernandez AC, Estrella J, Oglesbee D, Larson AA, Van Hove JLK. The clinical utility in hospital-wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA-related disorders. J Inherit Metab Dis. 2025;48(1):e12821. doi:10.1002/jimd.12821
Method Description
Describes how the test is performed and provides a method-specific reference
Growth differentiation factor 15 (GDF15) enzyme-linked immunosorbent assay is a quantitative sandwich enzyme immunoassay technique. Specimen is incubated in wells that have been coated with anti-GDF15 antibody. After incubation and washing, the wells are incubated with an enzyme-linked polyclonal antibody specific for human GDF15. After a second incubation and washing step, the wells are incubated with a substrate solution producing a blue color. A stop solution is added turning the blue color to yellow, which is then read on a microplate reader. The resulting absorbance is directly proportional to the level of GDF15 in the specimen.(Unpublished Mayo method)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Wednesday, Friday
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
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
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
- Authorized users can sign in to Test Prices for detailed fee information.
- Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
- Prospective clients should contact their account representative. For assistance, contact Customer Service.
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 instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US 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 Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
83520
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| GDF15 | Growth Differentiation Factor 15, P | 92665-9 |
| Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
|---|---|---|
| 64637 | Growth Differentiation Factor 15, P | 92665-9 |