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This test looks for presence or absence of familial mutations. The number of amplicons tested depends on the number and location of the familial mutations.
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 252816.
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.
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|252820||Galactosemia: GALT Family||42318-6||252210||Routing||42318-6|