Bardet-Biedl Syndrome via the MKKS/BBS6 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
7741 MKKS 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7741MKKS81479 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.

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 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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

Clinical Features and Genetics

Clinical Features

Bardet-Biedl syndrome (BBS) is a pleiotropic disorder characterized by retinal degeneration, obesity, post-axial 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). McKusick-Kaufman syndrome (MKKS) (OMIM# 236700) is characterized by hydrometrocolpos secondary to vaginal atresia and bilateral postaxial polydactyly (McKusick et al. JAMA 189:813-816, 1964). Both MKKS and Bardet- Biedl syndrome 6 (BBS6) (OMIM# 604896) are caused by variants in MKKS/BBS6 gene (Stone et al. Nat Genet 25:79-82, 2000; Slavotinek et al. Nat Genet 26:15-16, 2000; Katsanis et al. Nat Genet 26:67-70, 2000).

Genetics

MKKS and BBS6 are inherited as autosomal recessive disorders; however, complex inheritance has been reported in a few BBS families (Katsanis et al. Science 293:2256-2259, 2001). MKKS/BBS6 encodes a chaperonin protein (MKKS/BBS6), which shows similarity to the alpha subunit of the Thermoplasma acidophilum thermosome chaperonin protein (Stone et al. Nat Genet 25:79-82, 2000). MKKS/BBS6 protein interacts with two other CCT/TRiC chaperonin like BBS proteins, BBS10 and BBS12, to form a chaperonin complex that mediates BBSome complex assembly (Seo et al. PNAS 107:1488-1493, 2010). A mix of missense, nonsense, splicing, and small deletion variants has been reported in MKKS/BBS6 (Slavotinek et al. Nat Genet 26:15-16, 2000; Katsanis et al. 2000). BBS exhibits locus heterogeneity; at least 12 BBS genes have been identified (BBS1, BBS2, BBS3, BBS4, BBS5, MKKS/BBS6, BBS7, TTC8/BBS8, BBS9, BBS10, TRIM32/BBS11, and BBS12) (Tobin and Beales, Genet Med 11:386-402, 2009). In addition, hypomorphic variants in two Meckel-Gruber syndrome genes (MKS1 and CEP290) were reported to be associated with BBS, representing BBS13 and BBS14 respectively (Leitch et al. Nat Genet 40:443-448, 2008).

Clinical Sensitivity - Sequencing with CNV PG-Select

Variants in the MKKS/BBS6 gene are estimated to cause approximately 6% of BBS cases (Katsanis et al. Hum Mol Genet 13 Spec No 1:R65-R71, 2004)

Testing Strategy

This test provides full coverage of all coding exons of the MKKS 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 MKKS/BBS and the family members of patients who have known MKKS/BBS6 variants. Conclusive connections between clinical features and individual mutated BBS genes have not yet been made. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in MKKS.

Gene

Official Gene Symbol OMIM ID
MKKS 604896
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Bardet-Biedl Syndrome 6 AR 605231
Mckusick Kaufman Syndrome AR 236700

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
  • Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR. 2001. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 293: 2256–2259. PubMed ID: 11567139
  • Katsanis N. 2004. The oligogenic properties of Bardet-Biedl syndrome. Human Molecular Genetics 13: 65R–71. PubMed ID: 14976158
  • Katsanis, N., et.al. (2000). "Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome." Nat Genet 26(1): 67-70. PubMed ID: 10973251
  • Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Al-Fadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, et al. 2008. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nature Genetics 40: 443–448. PubMed ID: 18327255
  • McKusick, V. A., et.al. (1964). "Hydrometrocolpos as a Simply Inherited Malformation." Jama 189: 813-6. PubMed ID: 14172277
  • Seo, S. et.al. (2010). "BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly." Proc Natl Acad Sci U S A 107(4): 1488-1493. PubMed ID: 20080638
  • Slavotinek, A. M., et.al. (2000). "Mutations in MKKS cause Bardet-Biedl syndrome." Nat Genet 26(1): 15-6. PubMed ID: 10973238
  • Stone, D. L., et.al. (2000). "Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome." Nat Genet 25(1): 79-82. PubMed ID: 10802661
  • 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.

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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