Nephronophthisis / Senior-Loken Syndrome and Bardet-Biedl Syndrome via the SDCCAG8 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 | |
|---|---|---|---|---|---|
| 15197 | SDCCAG8 | 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
Nephronophthisis (NPH) is the most common genetic cause of progressive renal failure in children and young adults. NPH is characterized by polyuria, growth retardation, and progressive deterioration of renal function with normal or slightly reduced kidney size (Hildebrandt et al. Nat Genet 17:149-153, 1997; Hildebrandt et al. J Am Soc Nephrol 20:23-35, 2009). Nephronophthisis type 10 (NPH10) (OMIM 613615) is a form of juvenile nephronophthisis with Leber congenital amaurosis known as Senior-Loken syndrome 7 (SLSN7; OMIM 613615) with or without clinical features of Bardet-Biedl syndrome (Otto et al. Nat Genet 42:840-850, 2010). Bardet-Biedl Syndrome (BBS) is a pleiotropic disorder characterized by retinal degeneration, obesity, postaxial polydactyly, cognitive impairment, hypogenitalism, and renal and cardiovascular anomalies (Green et al. N Engl J Med 321:1002-1009, 1989; Elbedour et al. Am J Med Genet 52:164-169, 1994).
Genetics
NPH and BBS are inherited in an autosomal recessive manner. Variants in the SDCCAG8 gene cause NPH10/SLSN7 with or without clinical features of BBS (Otto et al. Nat Genet 42:840-850, 2010). SDCCAG8 encodes serologically defined colon cancer antigen 8 (SDCCAG8), which is localized to the distal ends of both centrioles and colocalized to the centrosomes throughout the cell cycle in both ciliated and non-ciliated cells (Otto et al. 2010). SDCCAG8 interacts directly with another ciliopathy protein known as oral-facial-digital syndrome 1 protein (OFD1) (Otto et al. 2010). Missense, nonsense, splicing, small deletion as well as gross deletion variants have been reported in the SDCCAG8 gene (Otto et al. 2010). Both NPH and BBS exhibit locus heterogeneity. Ten NPH and at least twelve BBS genes have been identified (Hildebrandt et al. J Am Soc Nephrol 20:23-35, 2009; Tobin and Beales, Genet Med 11:386-402, 2009).
Clinical Sensitivity - Sequencing with CNV PG-Select
Variants in the SDCCAG8 gene are estimated to cause approximately 3.3% of SLSN cases (Otto et al. Nat Genet 42:840-850, 2010).
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 SDCCAG8 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.
Indications for Test
Candidates for this test are patients with symptoms consistent with NPH or BBS and family members of patients who have known SDCCAG8 variants. Conclusive connections between clinical features and individual mutated NPH or BBS genes have not yet been made. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SDCCAG8.
Candidates for this test are patients with symptoms consistent with NPH or BBS and family members of patients who have known SDCCAG8 variants. Conclusive connections between clinical features and individual mutated NPH or BBS genes have not yet been made. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SDCCAG8.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| SDCCAG8 | 613524 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Diseases
| Name | Inheritance | OMIM ID |
|---|---|---|
| Bardet-Biedl Syndrome 16 | AR | 615993 |
| Senior-Loken Syndrome 7 | AR | 613615 |
Citations
- 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
- 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
- Hildebrandt et al. 1997. PubMed ID: 9326933
- Hildebrandt F. et al. 2009. Journal of the American Society of Nephrology : Jasn. 20: 23-35. PubMed ID: 19118152
- Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, Reeuwijk J van, Letteboer SJF, et al. 2010. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nature Genetics 42: 840–850. PubMed ID: 20835237
- Tobin, J. L., Beales, P. L. (2009). "The nonmotile ciliopathies." Genet Med 11(6): 386-402. PubMed ID: 19421068
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
Loading...
×
ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.