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Test ID GDF15 Growth Differentiation Factor 15 (GDF15), Plasma

Useful For

A circulating biomarker in myopathy-related mitochondrial disease as well as other conditions

 

Investigation of patients suspected of having a mitochondrial myopathy

Method Name

Enzyme-Linked Immunosorbent Assay (ELISA)

Reporting Name

Growth Differentiation Factor 15, P

Specimen Type

Plasma


Specimen Required


Container/Tube:

Preferred: Lavender top (EDTA) plasma

Acceptable: Green top (sodium heparin) plasma

Submission Container/Tube: Plastic vial

Specimen Volume: 0.5 mL

Collection Instructions:

1. Draw blood into an EDTA or sodium heparin tube and centrifuged immediately. 

2. Do not expose specimen to heat or direct sunlight.


Specimen Minimum Volume

0.2 mL

Specimen Stability Information

Specimen Type Temperature Time
Plasma Refrigerated (preferred) 90 days
  Frozen  90 days
  Ambient  28 days

Clinical Information

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 1:8,500. Mitochondrial diseases are varied, including mitochondrial DNA deletion syndromes such as Kearns-Sayre syndrome (KSS), mitochondrial depletion syndromes such as those caused by mutations 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, but they can 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

3 months* and older: ≤750 pg/mL

*This test is not recommended for infants <3 months of age due to the high levels of GDF15 contributed from the placenta during pregnancy.

Interpretation

Abnormal results along with clinical findings may be suggestive of mitochondrial disease. Additional workup is indicated.

Clinical Reference

1. DiMauro S, Schon EA: Mechanisms of disease: mitochondrial respiratory-chain diseases. N Engl J Med 2003;348:2656-2668

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 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

Day(s) and Time(s) Performed

Varies

Analytic Time

8 days

Test Classification

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

83520

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GDF15 Growth Differentiation Factor 15, P In Process

 

Result ID Test Result Name Result LOINC Value
64637 Growth Differentiation Factor 15, P 49853-5

Forms

1. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/neurology-request-form.pdf).

2. Biochemical Genetics Patient Information (T602) in Special Instructions.