Bardet-Biedl Syndrome (BBS) Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10349 ARL6 81479,81479 Order Options and Pricing
BBIP1 81479,81479
BBS1 81406,81479
BBS10 81404,81479
BBS12 81479,81479
BBS2 81406,81479
BBS4 81479,81479
BBS5 81479,81479
BBS7 81479,81479
BBS9 81479,81479
CEP164 81479,81479
CEP290 81408,81479
CFAP418 81479,81479
IFT172 81479,81479
IFT27 81479,81479
IFT74 81479,81479
LZTFL1 81479,81479
MKKS 81479,81479
MKS1 81479,81479
NPHP1 81406,81405
SDCCAG8 81479,81479
TMEM67 81407,81479
TRIM32 81479,81479
TTC21B 81479,81479
TTC8 81479,81479
WDPCP 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10349Genes x (26)81479 81404, 81405, 81406, 81407, 81408, 81479 $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

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 an autosomal recessive disorder marked by primary features of obesity, polydactyly, pigmentary retinopathy, hypogonadism, renal anomalies and cognitive impairment (Elbedour et al. 1994. PubMed ID: 7802002; Sheffield. 2010. PubMed ID: 20697559). Secondary features include diabetes, hypertension and congenital heart defects (Green et al. 1989. PubMed ID: 2779627). Although BBS is a rare condition, diagnosis is complicated by the fact that many of the clinical features (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 McKusick-Kaufman syndrome, Meckel-Gruber Syndrome, Joubert Syndrome , Nephronophthisis, Senior-Loken Syndrome, and Leber Congenital Amaurosis. Thus, molecular testing is often useful for confirmation of a clinical diagnosis and to aid in the treatment and management of BBS.

Genetics

BBS is a genetically heterogeneous disorder known to be caused by pathogenic variants in at least 25 different genes including ARL6/BBS3, BBIP1/BBS18, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP164, CEP290/BBS14, C8orf37, IFT27/BBS19, IFT74/BBS20, IFT172, LZTFL1/BBS17, MKKS/BBS6, MKS1/BBS13, NPHP1, SDCCAG8/BBS16, TRIM32/BBS11, TTC8/BBS8, TTC21B, and WDPCP/BBS15 (Forsythe and Beales 2015. PubMed ID: 20301537; Leitch et al. 2008. PubMed ID: 18327255; Kim et al. 2010. PubMed ID: 20671153; Otto et al. 2010. PubMed ID: 20835237; Lindstrand et al. 2016. PubMed ID: 27486776; Heon et al. 2016. PubMed ID: 27008867; Bujakowska et al. 2015. PubMed ID: 25168386; Lindstrand et al. 2014. PubMed ID: 24746959). TMEM67 is included in this panel as it has been suggested to be a genetic modifier of the BBS phenotype (Leitch et al. 2008. PubMed ID: 18327255). BBS is marked by both intra- and inter-familial phenotypic variability.

It has been suggested that BBS has an oligogenic inheritance pattern. Triallelism hypothesis states that three pathogenic alleles in two genes are necessary for BBS. This hypothesis attempts to explain variable expressivity and the observation that several individuals with BBS have been found to have a third rare, possibly pathogenic variant in a second BBS gene (Katsanis et al. 2001. PubMed ID: 11567139; Katsanis. 2004. PubMed ID: 14976158; Leitch et al. 2008. PubMed ID: 18327255). However, others have not found evidence for triallelic inheritance patterns in their cohorts (Smaoui et al. 2006. PubMed ID: 16877420; Abu-Safieh et al. 2012. PubMed ID: 22353939). In the majority of reported cases two pathogenic variants in one gene are sufficient for BBS. However, the severity may be modulated by an additional hypomorphic or loss of function allele(s) at another locus. It is recommended to use an autosomal recessive inheritance model when counseling patients and their families (Forsythe and Beales 2015. PubMed ID: 20301537). See individual gene test descriptions for more information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical sensitivity for this BBS NGS test is ~80% (Forsythe and Beales. 2015. PubMed ID: 20301537; Lindstrand et al. 2016. PubMed ID: 27486776).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 99.5% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

This test is for patients with symptoms of BBS.

Related Tests

Name
PGxome®
Joubert and Meckel-Gruber Syndromes Panel
Nephronophthisis and Senior-Loken Syndrome Panel

Citations

  • Abu-Safieh et al. 2012. PubMed ID: 22353939
  • Bujakowska et al. 2015. PubMed ID: 25168386
  • Elbedour et al. 1994. PubMed ID: 7802002
  • Forsythe and Beales. 2015. PubMed ID: 20301537
  • Green et al. 1989. PubMed ID: 2779627
  • Heon et al. 2016. PubMed ID: 27008867
  • Katsanis et al. 2001. PubMed ID: 11567139
  • Katsanis. 2004. PubMed ID: 14976158
  • Kim et al. 2010. PubMed ID: 20671153
  • Leitch et al. 2008. PubMed ID: 18327255
  • Lindstrand et al. 2014. PubMed ID: 24746959
  • Lindstrand et al. 2016. PubMed ID: 27486776
  • Otto et al. 2010. PubMed ID: 20835237
  • Sheffield. 2010. PubMed ID: 20697559
  • Smaoui et al. 2006. PubMed ID: 16877420

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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ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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