HFI Laboratory at Boston University

About our HFI test

We are pleased to provide a genetic screen for mutations that cause hereditary fructose intolerance (HFI). We have determined the structure of the normal aldolase B gene and have, along with medical researchers around the world, identified many mutations. Three of these mutations in this gene apparently account for >75% of all HFI mutations. We have investigated these frequencies in a large pool of European and American patients with HFI.

Our analysis uses genomic DNA from lymphocytes purified from whole blood. We do the genetic screen using the polymerase chain reaction technique (PCR) and hybridization with the mutation-specific oligonucleotides. While this test is relatively harmless and effective, the screen does not monitor >95% of HFI mutations (many are unkown and require further research), and is not considered diagnostic. In otherwords, a negative result does not necessarily mean someone does NOT suffer from HFI. While this test is NOT diagnostic, if it is positive it may aid in making a clear diagnosis.

The assay requires 2-5 cc. of whole blood in EDTA (lavender tops) shipped at room temperature. [Important: if blood is drawn on a Friday, DO NOT send until Monday (refrigerate over the weekend). The laboratory is not open on the weekend. ] Be sure to provide patient information and contact information for the results. You may send it overnight at room temperature to:

HFI Laboratory
Boston University
Department of Biology
24 Cummington Street
Boston, MA, 02215.

Because we batch samples the analysis takes from 4-12 weeks to complete. We currently charge $450 for this service. It is a one-time charge and subsequent tests for family members are free. The laboratory is a licensed CLIA facility (#22D0903276) and Clinical Laboratory (#5060; lic. #1917) in the Commonwealth of Massachussetts. We use the following CPT codes for billing purposes: 83890 (DNA isolation), 83898 (PCR amplification), 83894 (ASO dot-blot).

If you are interested in being tested, ask your physician to order the test and have blood drawn. The results need to be interpreted and explained by a trained medical physician or genetic counselor.

See GeneTests for more information on other DNA diagnostic tests.