Cone-Rod Dystrophy via the UNC119 Gene
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 4283 | UNC119 | 81479 | 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.
Clinical Features and Genetics
Clinical Features
Cone-rod dystrophy (CORD/CRD) is a rare hereditary retinal disorder with a worldwide prevalence of ~1 in 40,000. CRD is characterized by dysfunction or degeneration of cone photoreceptors with relative preservation of rod function in the initial stages. The most common symptoms are photophobia and epiphora in bright light, decreased visual acuity, and dyschromatopsia. Fundus changes may vary from mild pigment granularity to a distinct atrophic lesion in the central macula. As the disease progresses, degeneration of rod photoreceptors also occurs and leads to progressive night blindness and peripheral visual field loss (Hamel 2007).
UNC119-associated CRD is characterized as a slowly progressive, late-onset retinal degeneration (Kobayashi et al. 2000).
Genetics
Non syndromic CRD is genetically heterogeneous and exhibits autosomal dominant (ad), autosomal recessive (ar) and, rarely, X-linked (xl) inheritance (Hamel 2007). So far, about 25 genes have been implicated in different forms of CRD (RetNet). CRD causative gene UNC119 encodes a mammalian uncoordinated 119 protein also known as Human Retina Gene 4 protein (HRG4), which is highly expressed in ribbon synapses of rod and cone photoreceptors (Higashide et al. 1996; Swanson et al. 1998; Higashide et al. 1998). UNC119 protein may play a role in the mechanism of photoreceptor neurotransmitter release through the synaptic vesicle cycle by interaction with other synaptic proteins in the rod and cone synapse (Higashide et al. 1998).
Clinical Sensitivity - Sequencing with CNV PGxome
The sensitivity for UNC119 is reported to be 0.77%, which indicates that mutation in this gene is an uncommon cause of cone-rod dystrophies (Zhang 2013).
Testing Strategy
This test provides full coverage of all coding exons of the UNC119 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
All patients with symptoms suggestive of Cone-rod dystrophy.
All patients with symptoms suggestive of Cone-rod dystrophy.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| UNC119 | 604011 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Immunodeficiency 13 | AD | 615518 |
Related Test
| Name |
|---|
| Cone-Rod Dystrophy Panel |
Citations
- Hamel CP. 2007. Cone rod dystrophies. Orphanet J Rare Dis 1;2:7. PubMed ID: 17270046
- Higashide T, McLaren MJ, Inana G. 1998. Localization of HRG4, a photoreceptor protein homologous to Unc-119, in ribbon synapse. Investigative ophthalmology & visual science 39: 690–698. PubMed ID: 9538874
- Higashide T, Murakami A, McLaren MJ, Inana G. 1996. Cloning of the cDNA for a Novel Photoreceptor Protein. Journal of Biological Chemistry 271: 1797–1804. PubMed ID: 8576185
- Kobayashi A, Higashide T, Hamasaki D, Kubota S, Sakuma H, An W, Fujimaki T, McLaren MJ, Weleber RG, Inana G. 2000. HRG4 (UNC119) mutation found in cone–rod dystrophy causes retinal degeneration in a transgenic model. Investigative ophthalmology & visual science 41: 3268–3277. PubMed ID: 11006213
- RetNet: Genes and Mapped Loci Causing Retinal Diseases
- Swanson DA, Chang JT, Campochiaro PA, Zack DJ, Valle D. 1998. Mammalian orthologs of C. elegans unc-119 highly expressed in photoreceptors. Investigative ophthalmology & visual science 39: 2085–2094. PubMed ID: 9761287
- Zhang Q. 2013. Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy. Molecular Medicine Reports. PubMed ID: 23563732
Ordering/Specimens
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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ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.