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Syndromic X-linked intellectual Disability Type 34, via the NONO 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
NONO 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
10695NONO81479 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


  • Renee Bend, PhD

Clinical Features and Genetics

Clinical Features

Pathogenic variants in the NONO gene cause syndromic X-linked intellectual disability (XLID), type 34. This disorder is male-limited and presents in infancy with global developmental delay—including hypotonia, motor delays, cognitive deficits, and speech delay. Initial brain scans often appear normal; however, most patients develop dysplasia of the corpus callosum and some develop other central nervous system abnormalities, including cerebellar defects. Many people with this disorder learn to crawl or walk with ataxia, and can also develop language abilities over time. Physically, individuals with pathogenic NONO variants have a slender build, relative macrocephaly, and frontal bossing. Congenital heart defects are also common, notably left ventricular non-compaction cardiomyopathy (LVNC), as well as right ventricular hypertrophy, patent foramen ovale, patent ductus arteriosus, and atrial or ventricular septal defects. Some patients have early difficulties with feeding or breathing, requiring medical support. Behaviorally, these individuals are usually characterized as shy and anxious, though cheerfulness, autism, impulsiveness, aggressiveness, and hyperactivity have also been reported. Facial dysmorphism is variable, but can include strabismus, hypertelorism, epicanthal folds, long face, malar hypoplasia, prominent nose, short philtrum, and open mouth. Other minor features of this disorder are cryptorchidism, joint hyperreflexia, joint hyperlaxity, kyphosis, scoliosis, plagiocephaly, fifth finger clinodactyly, pes planus, hallux valgus, long narrow hands and feet, sleep apnea, myopia, café au lait macules, accessory nipples, and intention tremor (Mircsof et al. 2015. PubMed ID: 26571461, Reinstein et al. 2016. PubMed ID: 27329731, Scott et al. 2017. PubMed ID: 27550220).

While there are no treatments for NONO-related intellectual disability syndrome, patients and their families may benefit from a molecular diagnosis for prognostic information, early identification and treatment of symptoms, or for connecting with NONO-related XLID support groups. For reproductive planning, families can get maternal testing to determine if a variant arose de novo in the proband, or is present in the maternal germline.


NONO-related intellectual disability syndrome is inherited in an X-linked recessive pattern, and to date only males have been characterized. Roughly half of the pathogenic NONO variants are inherited from unaffected mothers and the others arise de novo (Mircsof et al. 2015. PubMed ID: 26571461, Reinstein et al. 2016. PubMed ID: 27329731, Scott et al. 2017. PubMed ID: 27550220). Carrier females do not express any apparent features of the disorder; however, it is important to note that the total numbers of patients identified is still very small (less than 10 documented in the literature). Therefore, the possibility of affected females (perhaps due to skewed X-inactivation) has not yet been thoroughly explored.

NONO is a non-POU domain-containing octamer-binding gene located at Xq13.1. NONO encodes a nucleic acid binding protein involved in RNA transcriptional regulation, splicing, nuclear retention, and transport (www.genecards.org, Stelzer et al. 2016. PubMed ID: 27322403). Pathogenic variants include nonsense, frameshift, canonical splice, non-canonical splice, and large deletions. Functional studies show that little or no NONO protein is produced from these altered transcripts, indicating a loss of function mechanism of disease (Mircsof et al. 2015. PubMed ID: 26571461, Scott et al. 2017. PubMed ID: 27550220). The small causative variants are all located in the latter half of the protein, including in the last exon (Reinstein et al. 2016. PubMed ID: 27329731). One large deletion includes coding exons 1-3 (Scott et al. 2017. PubMed ID: 27550220). Two pathogenic NONO variants have been observed more than once—namely a nonsense alteration at amino acid 365, and a frameshift beginning at amino acid 466. The differential diagnosis for NONO XLID is quite broad because the presenting features can be general. Pathogenic NONO variants are expected to have 100% penetrance in males.

Clinical Sensitivity - Sequencing with CNV PGxome

The diagnostic yield of this test for males with syndromic intellectual disability is predicted to be very low (<0.1%), however no large cohorts estimating clinical sensitivity have been published for this gene. It is important to note the high clinical and genetic heterogeneity of intellectual disability, and improved diagnostic yields that result from testing large panels of genes as well as testing parents along with the patient using a trio approach. The analytical sensitivity of this test is expected to be high, as it will detect all types of NONO variants identified to date, including sequence variants as well as multiple-exon deletions or duplications in this gene.

Testing Strategy

Additional Sanger sequencing is performed for regions not captured or with insufficient numbers of sequence reads.

This test provides full coverage of all coding exons of the NONO 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

This test is suitable for males with syndromic intellectual disability and a family history consistent with X-linked inheritance. Due to the high clinical and genetic heterogeneity of syndromic ID, NONO could be included as part of a larger sequencing panel or exome test.


Official Gene Symbol OMIM ID
NONO 300084
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Mental Retardation, X-linked, Syndromic 34 XL 300967


  • Mircsof D et al. 2015. PubMed ID: 26571461
  • Reinstein et al. 2016. PubMed ID: 27329731
  • Scott et al. 2017. PubMed ID: 27550220
  • Stelzer et al. 2016. PubMed ID: 27322403


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