Bardet-Biedl Syndrome via the ARL6/BBS3 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 | |
|---|---|---|---|---|---|
| 15145 | ARL6 | 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
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder marked by primary features of obesity, polydactyly, pigmentary retinopathy, hypogonadism, renal anomalies, and mental retardation (Elbedour et al. Am J Med Genet 52(2):164-169, 1994; Sheffield. Trans Amer Clin Climatol Assoc 121:172-182, 2010). Secondary features include diabetes, hypertension, and congenital heart defects (Green et al. N Engl J Med 321(15):1002-1009, 1989). Although BBS is a rare condition, diagnosis is complicated by the fact that many of the clinical features (i.e. obesity, diabetes, hypertension, and developmental delay) are common. In addition, many of the BBS clinical features overlap with those of other well-described developmental disorders, including Meckel-Gruber syndrome (MKS; OMIM 249000), Joubert syndrome (JBTS; OMIM 213300), nephronophthisis (NPH; OMIM 256100), Senior-Loken syndrome (SLS; OMIM 609254), Leber congenital amaurosis (LCA; OMIM 204000), and Alstrom syndrome (OMIM 203800).
Genetics
The ARL6/BBS3 gene encodes the ADP-ribosylation factor-like 6 protein (ARL6), and recessive variants in this gene have been shown to cause symptoms of Bardet-Biedl syndrome (Chiang et al. Am J Hum Genet 75(3): 475-484, 2004; Fan et al. Nat Genet 36(9): 989-993, 2004). ARF-like proteins typically regulate intracellular trafficking (Pasqualato et al. EMBO Rep 3(11): 1035-1041, 2002). Although the precise function of the ARL6 protein is not known, it is thought to have a critical role in the intracellular transport of ciliary proteins, including many of the other BBS proteins (Chiang et al. 2004). Both missense and nonsense variants have been reported in the ARL6/BBS3 gene (Chiang et al. 2004; Fan et al. 2004). In addition, gross deletions within the ARL6/BBS3 locus have been reported (Abu Safieh et al. J Med Genet 47(4): 236-241, 2010; Chen et al. Invest Ophthalmol Vis Sci 52(8): 5317-5324, 2010).
Clinical Sensitivity - Sequencing with CNV PG-Select
Variants in the ARL6/BBS3 gene are estimated to cause approximately 1% of BBS cases (Katsanis Hum Mol Genet 13 Spec No 1:R65-71, 2004).
Testing Strategy
This test is performed using Next-Generation sequencing with additional Sanger sequencing as necessary.
This test provides full coverage of all coding exons of the ARL6 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.
Indications for Test
This test is useful for patients with symptoms of BBS and family members of patients with known variants in the ARL6/BBS3 gene. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ARL6.
This test is useful for patients with symptoms of BBS and family members of patients with known variants in the ARL6/BBS3 gene. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ARL6.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| ARL6 | 608845 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Bardet-Biedl Syndrome 3 | AR | 600151 |
Citations
- Abu Safieh, L. et al. (2010). "Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping." J Med Genet 47(4): 236-241. PubMed ID: 19858128
- Chen, J. et al. (2011). "Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes." Invest Ophthalmol Vis Sci 52(8): 5317-5324. PubMed ID: 21642631
- Chiang, A. P. et.al. (2004). "Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)." Am J Hum Genet 75(3): 475-484. PubMed ID: 15258860
- Elbedour K, Zucker N, Zalzstein E, Barki Y, Carmi R. 1994. Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients. Am. J. Med. Genet. 52: 164–169. PubMed ID: 7802002
- Fan, Y. et.al. (2004). "Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome." Nat Genet 36(9): 989-993. PubMed ID: 15314642
- Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, Heath O, McManamon PJ, O’Leary E, Pryse-Phillips W. 1989. The cardinal manifestations of Bardet–Biedl syndrome, a form of Laurence–Moon–Biedl syndrome. New England Journal of Medicine 321: 1002–1009. PubMed ID: 2779627
- Katsanis N. 2004. The oligogenic properties of Bardet-Biedl syndrome. Human Molecular Genetics 13: 65R–71. PubMed ID: 14976158
- Pasqualato, S. et.al. (2002). "Arf, Arl, Arp and Sar proteins: a family of GTP-binding proteins with a structural device for 'front-back' communication." EMBO Rep 3(11): 1035-1041. PubMed ID: 12429613
- Sheffield, V.C. 2010. The blind leading the obese: the molecular pathophysiology of a human obesity syndrome. Trans Am Clin Climatol Assoc 121:172-182. PubMed ID: 20697559
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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