Joubert Syndrome via the ARL13B Gene
Summary and Pricing 
Test Method
Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 15231 | ARL13B | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
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
Joubert syndrome (JS) (OMIM 213300) is marked by ataxia, hypotonia, abnormal eye movements, apraxia, neonatal respiratory anomalies, mental retardation, agenesis/hypoplasia of the cerebellar vermis, and a brain malformation known as the "molar tooth sign" (MTS) on cranial MRI. MTS is considered to be the most characteristic diagnostic feature. JS patients have substantial phenotypic variation. Some JS patients develop retinal dystrophy and/or progressive renal failure.
Genetics
JS is inherited in an autosomal recessive manner. Two missense and one nonsense causative variants in the ARL13B gene have been reported to date in two families (Cantagrel et al. Am J Hum Genet 83:170-179, 2008). JS has also been linked to variants in the AHI1, CEP290, MKS3, CC2D2A, NPHP1, and RPGRIP1L genes. PreventionGenetics performs tests for all of these genes.
Clinical Sensitivity - Sequencing with CNV PG-Select
Variants in ARL13B appear to be a minor cause of Joubert syndrome, accounting for perhaps 2% of cases (Cantagrel et al. Am J Hum Genet 83:170-179, 2008).
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 ARL13B 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.
To support research and because development of this test was funded by the NIH, we ask that a completed Clinical Feature Checklist, which is available from our web site, accompany each test requisition. Checklists are not required for carrier testing.
Indications for Test
Patients with symptoms consistent with JS, particularly those who have been tested and found to be negative for other, more commonly mutated Joubert genes, are candidates. Conclusive connections between clinical features and mutated genes have not yet been made. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ARL13B.
Patients with symptoms consistent with JS, particularly those who have been tested and found to be negative for other, more commonly mutated Joubert genes, are candidates. Conclusive connections between clinical features and mutated genes have not yet been made. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ARL13B.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| ARL13B | 608922 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Joubert Syndrome 8 | AR | 612291 |
Citations
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
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ORDER OPTIONS
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2) Select Additional Test Options
No Additional Test Options are available for this test.