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Infantile Cerebellar-Retinal Degeneration the ACO2 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
ACO2 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11059ACO281479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

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


  • Dana Talsness, PhD

Clinical Features and Genetics

Clinical Features

Infantile cerebellar-retinal degeneration (ICRD) is an autosomal recessive, severe, infantile-onset (2–6 months of age), neurodegenerative disorder characterized by variable appearance of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities (strabismus, nystagmus, abnormal eye movements). Affected individuals show profound psychomotor retardation and failure to acquire developmental milestones. Typical features include the appearance of head bobbing and athetoid movements of the upper limbs along with horizontal nystagmus (when the individuals were held at the upright position), gradual evolution of bilateral optic atrophy and steadily declining auditory brain response, reflecting sensorineural hearing loss of variable severity (Spiegel et al. 2012).


Combining homozygosity mapping with whole-exome sequencing enabled the identification of the c.336C>G (p.Ser112Arg) causative mutation in ACO2 in eight ICRD affected individuals. So far, only this mutation has been reported to be associated with ICRD (Human Gene Mutation Database). Also, c.336C>G is reported as a founder mutation in people of Arab ancestry because all eight affected individuals from two unrelated clans were homozygous for the mutation. Their parents (10 individuals) and one of the healthy sibs were heterozygous for this mutation, and three healthy sibs were homozygous for the normal allele. All affected individuals shared a similar homozygous haplotype, and this mutation was not found in 128 anonymous individuals of the same ethnic origin (Spiegel et al. 2012).

ACO2 encodes an essential mitochondrial metabolic enzyme aconitase a component of the Krebs cycle, which is known to be a crucial metabolic pathway that contributes to ATP synthesis. Cellular aconitase activity, measured in lymphoblasts of two ICRD affected individuals  showed severe reduction (Spiegel et al. 2012).

Clinical Sensitivity - Sequencing with CNV PGxome

Predicting clinical sensitivity for the ACO2 gene is challenging due to genetic heterogeneity of optic atrophy. However, all the reported causative mutations are detectable by this method. Gross deletions have not been reported in this gene (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the ACO2 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

Patients with symptoms suggestive of inherited optic neuropathy are candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ACO2.


Official Gene Symbol OMIM ID
ACO2 100850
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Infantile cerebellar-retinal degeneration AR 614559


  • Human Gene Mutation Database (Bio-base).
  • Spiegel R, Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J, Edvardson S, Mahajna M, Zenvirt S, Saada A, Shalev S, Feuk L, et al. 2012. Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2. The American Journal of Human Genetics 90: 518523. PubMed ID: 22405087


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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View Ordering Instructions

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2) Select Additional Test Options

No Additional Test Options are available for this test.

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