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Autism Spectrum Disorders via the KATNAL2 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
KATNAL2 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9817KATNAL281479 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


  • Greg Fischer, PhD

Clinical Features and Genetics

Clinical Features

Autism Spectrum Disorders (ASD) include several neurodevelopmental disorders characterized by varying degrees of social impairment, communication ability, and propensity for restricted interests and repetitive behavior(s) (Levy et al. 2009. PubMed ID: 19819542). ASD usually presents by age 3. Diagnosis is based on the degree and severity of symptoms and behaviors (Diagnostic and Statistical Manual of Mental Disorders (DSM-5); McPartland et al. 2016). Comorbidities occur in more than 70% of cases and include intellectual disability (ID), epilepsy, language deficits, and gastrointestinal problems (Sztainberg and Zoghbi. 2016. PubMed ID: 27786181). Recent studies using whole exome trios have identified novel gene candidates, with familial and de novo variants from several hundred genes now implicated in the development of ASD (Bourgeron. 2016. PubMed ID: 27289453).


Genetic aberrations are reported to be responsible for 50%-90% and 15%-50% of ASD and ID cases, respectively, and inheritance overall is multifactorial (Larsen et al. 2016. PubMed ID: 27790361; Karam et al. 2015. PubMed ID: 25728503). Incidence of ASD is approximately 1 in 68 individuals with a male-to-female ratio of 4:1 (Center for Disease Control 2014). De novo missense and likely gene disrupting variants are 15% and 75% more frequent in ASD patients than unaffected controls, respectively (Iossifov et al. 2014. PubMed ID: 25363768). Multiple independent de novo sequence variants in the same gene among unrelated probands has been reported as a potential means to identify ASD risk alleles (Sanders et al. 2012. PubMed ID: 22495306).

KATNAL2 (Katanin P60 subunit A-like 2) is a putative microtubule-severing ATPase that, in mice, has been shown to impact dendritic branch formation in the developing brain (Williams et al. 2016. PubMed ID: 27161796). KATNAL2 may also play a role in ciliogenesis and centriole activity (Dunleavy et al. 2017. PubMed ID: 29136647).

De novo variants in KATNAL2 have been reported in individuals with ASD features from simplex families (Sanders et al. 2012. PubMed ID: 22495306; O'Roak et al. 2012. PubMed ID: 22495309; Stessman et al. 2017. PubMed ID: 28191889), supporting an autosomal dominant mode of inheritance. Maternally-inherited KATNAL2 likely gene disrupting variants (nonsense and splice site) have also been reported in individuals with ASD phenotypes (Yuen et al. 2015. PubMed ID: 25621899; Stessman et al. 2017. PubMed ID: 28191889). Of note, females are reported to have more variants in ASD risk genes than males, but require a greater mutational burden than males before clinical manifestation of ASD features (Jacquemont et al. 2014. PubMed ID: 24581740). Furthermore, variants predicted to disrupt KATNAL2 protein function (splice site, nonsense, frameshift) have also been reported in population databases composed of presumably unaffected individuals (Supplementary Table 18, Stessman et al. 2017. PubMed ID: 28191889) which may be related to sex-specific difference in ASD manifestations or incomplete penetrance.

Clinical Sensitivity - Sequencing with CNV PGxome

Currently, the contribution of de novo and inherited factors to Autism Spectrum Disorders (ASD) risk is estimated to be approximately 50-60% (Krumm et al. 2015. PubMed ID: 25961944). KATNAL2 is categorized as a gene with ‘high confidence’ regarding its association with ASD in the Simons Foundation Autism Research Initiative (SFARI) Database (https://gene.sfari.org/database/human-gene/KATNAL2). However, more than 700 genes have been associated with ASD features (Bourgeron. 2016. PubMed ID: 27289453), suggesting that the clinical sensitivity of any single gene sequencing or copy number variant test in the context of autism spectrum disorder phenotypes is small. For KATNAL2, the true clinical sensitivity of sequence or copy number variant analyses is unknown.

Testing Strategy

This test provides full coverage of all coding exons of the KATNAL2 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other 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

De novo and maternally-inherited KATNAL2 variants have been reported to date. A panel (or exome/genome) sequencing test would nearly always be more appropriate for patients with ASD, unless previous clinical knowledge implicates the KATNAL2 gene. For example, an affected individual with a family member having a known KATNAL2 variants and similar clinical features may consider KATNAL2 testing (targeted Sanger sequencing for the known variant may be most appropriate).


Official Gene Symbol OMIM ID
KATNAL2 614697
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Autism Susceptibility 1 AD 209850

Related Test

Autism Spectrum Disorders via the CACNA2D3 Gene


  • Bourgeron. 2016. PubMed ID: 27289453
  • Center for Disease Control and Prevention. 2014. Morbidity and Mortality Weekly Report. Surveillance Summaries (Washington, D.C.). 63: 1-21. PubMed ID: 24670961
  • Dunleavy et al. 2017. PubMed ID: 29136647
  • Iossifov et al. 2014. PubMed ID: 25363768
  • Jacquemont et al. 2014. PubMed ID: 24581740
  • Karam et al. 2015. PubMed ID: 25728503
  • Krumm et al. 2015. PubMed ID: 25961944
  • Larsen et al. 2016. PubMed ID: 27790361
  • Levy et al. 2009. PubMed ID: 19819542
  • McPartland et al. 2016. Encyclopedia of Mental Health. 2: 124-130.
  • O'Roak et al. 2012. PubMed ID: 22495309
  • Sanders et al. 2012. PubMed ID: 22495306
  • Stessman et al. 2017. PubMed ID: 28191889
  • Sztainberg and Zoghbi. 2016. PubMed ID: 27786181
  • Williams et al. 2016. PubMed ID: 27161796
  • Yuen et al. 2015. PubMed ID: 25621899


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

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