GTR Home > Tests > Bardet Biedl panel


Test order codeHelp: 5003

Test name


Bardet Biedl panel (BBS)

Purpose of the test


This is a clinical test intended for Help: Diagnosis



1 condition tested. Click Indication tab for more information.


Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

18 genes and variants. Click Methodology tab for more information.


Clinical validity


Establishing the diagnosis of BBS in a given individual may be delayed as a result of the slow emergence and variable expression of the clinical features [Beales et al 1999]. Difficulties in diagnosis arise, for example, in an obese child with learning difficulties and developmental delay but without polydactyly. Until he or she develops visual disturbance, the differential diagnosis is broad.


Not provided

Clinical utility


Establish or confirm diagnosis

  • The clinical sensitivity can be dependent on variable factors such as age or family history. In such cases a general statement should be given. The clinical specificity can be dependent on variable factors such as age or family history. In such cases a general statement should be given, even if quantification can only be made case by case. Although clinical specificity cannot be predicted, it is not 100%. Due to highly variable expressivity, many individuals who do not meet the full diagnostic criteria for BBS or have mild features of the disease may still carry mutations in BBS related genes. Family members of affected individuals may carry the same genetic mutation but have mild clinical manifestations such as slightly elevated liver enzymes

How to order


Order URL Help:

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis

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