Bardet-Biedl Syndrome (BBS): BBS2 (Known Mutation)

CPT: 81403
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Test Details

Test Includes

All coding nucleotides of the specified gene(s), plus at least two and typically 20 nucleotides flanking each coding region.

Methodology

DNA sequencing

Clinical Information

Special Instructions

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 252553.

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.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
252756 BBS: BBS2 Family 48598-7 252076 Routing 48598-7

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The LOINC® codes are copyright © 1994-2017, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf