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 GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
4867 SDCCAG8 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
4867SDCCAG881479 81479 $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.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

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).

Testing Strategy

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.

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).

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.

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

Related Tests

Name
Bardet-Biedl Syndrome via the ARL6/BBS3 Gene
Bardet-Biedl Syndrome via the BBS2 Gene
Bardet-Biedl Syndrome via the BBS4 Gene
Bardet-Biedl Syndrome via the BBS5 Gene
Bardet-Biedl Syndrome via the BBS9 Gene
Bardet-Biedl Syndrome via the MKKS/BBS6 Gene
Bardet-Biedl Syndrome via the TRIM32/BBS11 Gene
Joubert Syndrome, Meckel-Gruber Syndrome, and Nephronophthisis via the TMEM67 Gene
Nephronophthisis and Joubert Syndrome via the NPHP1 Gene
Nephronophthisis and Senior-Loken Syndrome via the CEP164 Gene
Nephronophthisis and Senior-Loken Syndrome via the IQCB1/NPHP5 Gene
Nephronophthisis and Senior-Loken syndrome via the NPHP3 Gene
Nephronophthisis and Situs Inversus via the ANKS6 Gene
Nephronophthisis via the GLIS2/NPHP7 Gene
Nephronophthisis via the INVS / NPHP2 Gene
Nephronophthisis via the NEK8/NPHP9 Gene
Nephronophthisis via the NPHP4 Gene
Nephronophthisis-Like Nephropathy-1 (NPHPL1) via the XPNPEP3 Gene

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.
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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

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