GTR Home > Tests > Bardet Biedl panel

Overview

Test order codeHelp: 5003

Test name

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Bardet Biedl panel (BBS)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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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.

Genes

Clinical validity

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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.

Citations

Not provided

Clinical utility

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Not provided

How to order

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Order URL Help: https://www.centogene.com/ordering/how-to-order-a-test.html

Test services

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

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