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 unknown and require further research), and is not considered diagnostic. In other words, 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:

Boston University Clinical Testing Laboratory-HFI Lab
c/o Dr. Lynn Doucette-Stamm, Supervisor, Room 405A
610 Commonwealth Avenue
Boston, MA 02215

When sending a sample, please telephone the laboratory at 617-353-5310 (can leave a mesage) or -5311, or send email to Dr. Tolan.

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 Massachusetts.

We use the following new Molecular Pathology Procedure CPT code for billing purposes: 81479 (unlisted molecular pathology procedure code). The diagnostic procedure is similar to the Tier 2 category 81403 but the specific analyte tested has not yet been listed. This code replaces the deleted CPT stacked codes 83890 (DNA isolation), 83898 (PCR amplification), 83894 (ASO dot-blot).

The ICD-9-CM diagnostic code for hereditary fructose intolerance is 271.2. As of October 2015, the code will convert to 2015 ICD-10-CM E74.12 Hereditary fructose intolerance.

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.