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Neurodevelopmental Disorder with or without Variable Brain Abnormalities via the MAPK8IP3 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
MAPK8IP3 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
15713MAPK8IP381479 81479,81479 $990 Order Options and Pricing

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Li Fan, MD, PhD, FCCMG, FACMG

Clinical Features and Genetics

Clinical Features

MAPK8IP3-related neurodevelopmental disorder with or without variable brain abnormalities is a rare neurological disorder with onset in childhood. The major symptoms include spastic diplegia, intellectual disability, developmental delay, impaired language comprehension and skill with variable severity, gait instability, cerebral atrophy and corpus callosum hypoplasia (Iwasawa et al. 2019. PubMed ID: 30945334). Other features include short stature, obesity, facial dysmorphism, autistic behavior, hypotonia, scoliosis, cortical visual impairment, epilepsy, and behavioral abnormalities. MRI image analysis shows corpus callosum hypoplasia, cerebral or cerebellar atrophy, perisylvian polymicrogyria, and delayed myelination. EEG also presents abnormalities. Phenotype of patients is variable (Iwasawa et al. 2019. PubMed ID: 30945334; Platzer et al. 2019. PubMed ID: 30612693).  

As neurodevelopmental disorders can be caused by defects in many genes with variable and overlapping presentations, it is difficult to diagnose by clinical manifestation and image studies only. An accurate molecular diagnosis is critical for treatment, prognosis, and prediction of recurrence risk as well as future family planning.


MAPK8IP3-related neurodevelopmental disorder with or without variable brain abnormalities is inherited in an autosomal dominant manner. Pathogenic variants in MAPK8IP3 include missense, nonsense, and splicing variants (Human Gene Mutation Database, Platzer et al. 2019. PubMed ID: 30612693). Large deletions/duplications have not been reported in the MAPK8IP3 locus (HGMD). De novo variants in this gene have been reported to be pathogenic (Iwasawa et al. 2019. PubMed ID: 30945334; Platzer et al. 2019. PubMed ID: 30612693).

MAPK8IP3 encodes mitogen-activated protein kinase 8-interacting protein 3, which is a member of the kinesin superfamily of proteins, a scaffold protein for mitogen-activated protein kinase (MAPK), and an adaptor protein for the kinesin-1 complex. This protein plays an essential role in intracellular transport such as axonal transport in neurons. This protein was also known as c-Junamino-terminal kinase (JNK)-interacting protein 3 (JIP3). It is highly expressed in the brain and at lower levels in the heart and other tissues. It presents in the cytoplasm and is accumulated in the growth cones of developing neurites of neurons (Kelkar et al. 2000. PubMed ID: 10629060). A zebrafish embryo model with pathogenic variants in MAPK8IP3 showed axon varicosities of the posterior lateral line nerve, suggesting an adverse effect on the developing axons (Iwasawa et al. 2019. PubMed ID: 30945334). Of six variants investigated using Caenorhabditis elegans models, two led to a significantly elevated density of axonal lysosomes, and five were associated with adverse locomotion (Platzer et al. 2019. PubMed ID: 30612693). In cell mod­els, MAPK8IP3 protein was identified as a regulator of axonal lysosome abundance (Gowrishankar et al. 2021. PubMed ID: 33788575) or a regulator of multiple components of the axonal cytoskeleton (Rafiq et al. 2022. PubMed ID: 35013510). MAPK8IP3 is intolerant to loss-of-function variants (Genome Aggregation Database). MAPK8IP3 has been cited as a non-essential gene for growth of human tissue culture cells (Online Gene Essentiality). 

Clinical Sensitivity - Sequencing with CNV PGxome

Pathogenic variants in MAPK8IP3 are considered a very rare cause of neurodevelopment disorders. To date, MAPK8IP3-related neurodevelopmental disorder with or without variable brain abnormalities has been reported in 18 patients (Iwasawa et al. 2019. PubMed ID: 30945334; Platzer et al. 2019. PubMed ID: 30612693). 

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This test provides full coverage of all coding exons of the MAPK8IP3 gene plus 10 bases flanking noncoding DNA in all available transcripts in addition to non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as ≥20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

MAPK8IP3 sequencing is recommended for patients suspected to have MAPK8IP3-related neurodevelopmental disorder with or without variable brain abnormalities. Targeted testing is indicated for family members of patients who have a known pathogenic variant in MAPK8IP3.


Official Gene Symbol OMIM ID
MAPK8IP3 605431
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Genome Aggregation Database (gnomAD).
  • Gowrishankar et al. 2021. PubMed ID: 33788575
  • Human Gene Mutation Database (Biobase).
  • Iwasawa et al. 2019. PubMed ID: 30945334
  • Kelkar et al. 2000. PubMed ID: 10629060
  • Online GEne Essentiality Database (OGEE).
  • Platzer et al. 2019. PubMed ID: 30612693
  • Rafiq et al. 2022. PubMed ID: 35013510


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

Disease Resources

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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