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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 GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
15231 ARL13B 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
15231ARL13B81479 81479(x2) $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Fang Xu, PhD, FACMG

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.

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


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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