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Bardet-Biedl Syndrome (BBS): BBS1 (Known Mutation)
All coding nucleotides of the specified gene(s), plus at least two and typically 20 nucleotides flanking each coding region.
This option is available when the mutation is known and can be documented by the ordering physician. If the mutation cannot be documented, please order test 252549.
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. See sample physician office consent form: Consent for Genetic Testing. In the case of family tests (ie, known mutations), please submit the result report of the first patient tested in the family (the index case), if not performed at a LabCorp facility. Other family members are subsequently tested for the specific mutation found in the first patient tested.