HFI Laboratory at Boston University

Requested Patient Information

(print this form, fill out, and include with sample)

Basic patient information requested for HFI Genetic Screening Test:

Patient Name:
Date of birth
Medical record number:
Sample Collection Date/time:

Name of the requesting physician:

Addresses:

To whom should the result be sent (including FAX number):

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To whom should the invoice be sent. (We do NOT bill insurance companies. This test is provided as a service to the diagnostic lab and/or physician who requests the test. We consider the request for this test as a contract with the lab/physician, and not the patient, because the test is not diagnostic and requires interpretation by a physician.):

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Other information:

Age of patient

Sex of patient

Ethincity*

Symptoms

Any previous diagnoses or tests

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*Ethnicity is requested so that we can better define mutations responsible for hereditary fructose intolerance (HFI) in the American population, especially in those ethnic groups not previously studied. This is important because in order to diagnose a genetic disease one has to know what most of the mutations are. Otherwise, someone could have a HFI mutation and it would not be detected because scientists are unaware of it. Current standards require that 90% of all mutations for a given disease be known to consider a genetic test to be valid for diagnosis. For HFI we now know only ~80% of ALL mutations and are able to routinely screen for those that comprise ~70%. More research is needed.