Bardet-Biedl Syndrome via the BBS1 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
7585 BBS1 81406 81406,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7585BBS181406 81406, 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

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Genetic Counselors

Geneticist

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. 1994; Sheffield. 2010). Secondary features include diabetes, hypertension, and congenital heart defects (Green et al. 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), Joubert syndrome (JBTS), nephronophthisis (NPH), Senior-Loken syndrome (SLS), Leber congenital amaurosis (LCA), and Alstrom syndrome.

Genetics

The BBS1 gene encodes the BBS1 protein, which is found in the centromes of mitotically dividing cells and in the basal bodies of the primary cilia (Kulaga et al. 2004). BBS1 interacts with six other BBS proteins (BBS2, BBS4, BBS5, BBS7, BBS9, and BBS11) to form a higher order structure known as the BBSome; the BBSome is critical for the maintenance and function of the primary cilia (Nachury et al. 2007). Recessive variants in BBS1 lead to defects in the primary cilia and symptoms of Bardet-Biedl Syndrome (BBS). A mix of missense, nonsense, frameshift, and splicing variants has been reported in the BBS1 gene. The M390R missense variant is the most common causative variant (Mykytyn et al. 2002; Mykytyn et al. 2003).

Testing Strategy

This test provides full coverage of all coding exons of the BBS1 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 BBS1 gene are the most frequent cause of BBS. BBS1 variants are estimated to cause approximately ~23% of BBS cases (Mykytyn et al. 2003; Katsanis 2004).

Indications for Test

Candidates for this test are patients with symptoms consistent with BBS and family members of patients who have known BBS1 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 BBS1.

Gene

Official Gene Symbol OMIM ID
BBS1 209901
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Bardet-Biedl Syndrome 1 AR 209900

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 and Meckel-Gruber Syndromes via the CEP290 Gene
Joubert Syndrome, Meckel-Gruber Syndrome, and Nephronophthisis via the TMEM67 Gene
Leber Congenital Amaurosis 10 (LCA10) via the CEP290 Gene
Nephronophthisis / Senior-Loken Syndrome and Bardet-Biedl Syndrome via the SDCCAG8 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
  • Katsanis N. 2004. The oligogenic properties of Bardet-Biedl syndrome. Human Molecular Genetics 13: 65R–71. PubMed ID: 14976158
  • Kulaga HM, Leitch CC, Eichers ER, Badano JL, Lesemann A, Hoskins BE, Lupski JR, Beales PL, Reed RR, Katsanis N. 2004. Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nature Genetics 36: 994–998. PubMed ID: 15322545
  • Mykytyn K, Nishimura DY, Searby CC, Beck G, Bugge K, Haines HL, Cornier AS, Cox GF, Fulton AB, Carmi R. 2003. Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1). The American Journal of Human Genetics 72: 429–437. PubMed ID: 12524598
  • Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen H, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, et al. 2002. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nature Genetics 31: 435-438. PubMed ID: 12118255
  • Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peränen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK. 2007. A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis. Cell 129: 1201–1213. PubMed ID: 17574030
  • 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

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