Test Catalog

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.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

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.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Growth Differentiation Factor 15, P

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.

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:

-Neurology Specialty Testing Client Test Request (T732)

-Biochemical Genetics Test Request (T798)

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

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
Frozen 90 days
Ambient 28 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.

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 (KSS), 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 mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), 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 (LAA / Lactate, Plasma and PYR / Pyruvic Acid, Blood) 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.

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 Jan;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 Feb 1;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 Jul;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 Nov;78(5):814-823

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

Growth differentiation factor 15 (GDF15) ELISA 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 at 450 and 570 nm on a microplate reader. The absorbance at 570 is subtracted from the absorbance at 450 to correct for optical imperfections and the resulting absorbance is directly proportional to the level of GDF15 in the specimen.(Package insert: Human GDF15 Immunoassay. R and D Systems, Inc; 2014)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

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.

8 to 15 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

1 month

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

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 Regional Manager. 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. This test 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.

83520

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports