• Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit




Associated disorders

The MFN2 gene is associated with autosomal dominant and recessive Charcot-Marie-Tooth disease type 2A2 (CMT2A2) (MedGen UID: 373098) and type 6A (CMT6A) (MedGen UID: 140747).

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Invitae tests that include this gene:

MFN2 is the most common known cause of CMT2, and approximately 20% of cases are attributed to pathogenic variants identified in MFN2.

The gene MFN2 encodes the protein mitofusin 2. Mitofusin 2 is made in many cell and tissue types, including muscles, the spinal cord, and nerves that connect the brain and spinal cord. This protein contributes to the maintenance and proper functioning of mitochondria.

  1. Santel, A, Fuller, MT. Control of mitochondrial morphology by a human mitofusin. J. Cell. Sci. 2001; 114(Pt 5):867-74. PMID: 11181170
  2. Züchner, S, et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann. Neurol. 2006; 59(2):276-81. doi: 10.1002/ana.20797. PMID: 16437557
  3. Lawson, VH, et al. Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology. 2005; 65(2):197-204. doi: 10.1212/01.wnl.0000168898.76071.70. PMID: 16043786
  4. Pich, S, et al. The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system. Hum. Mol. Genet. 2005; 14(11):1405-15. doi: 10.1093/hmg/ddi149. PMID: 15829499
  5. Del, Bo, R, et al. Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. Neurology. 2008; 71(24):1959-66. doi: 10.1212/01.wnl.0000327095.32005.a4. PMID: 18946002
  6. Chung, KW, et al. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain. 2006; 129(Pt 8):2103-18. doi: 10.1093/brain/awl174. PMID: 16835246
  7. Verhoeven, K, et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain. 2006; 129(Pt 8):2093-102. doi: 10.1093/brain/awl126. PMID: 16714318
  8. Bird, TD. Charcot-Marie-Tooth Neuropathy Type 2. 1998 Sep 24. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1285/ PMID: 20301462

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
MFN2 NM_014874.3