HFI Laboratory at Boston University

Diagnostic Tests and Who Performs Them


DNA Testing

A rapid, non-invasive test that requires only a small blood sample. US labs only

Dean Tolan, Ph.D. - Lab at Boston University does test for four mutations, which has a 86% detection rate for those of Northern European descent. This test is not diagnostic.

University Children's Genetics Laboratory (ProGenetic, Inc.) - Lab does test for only two mutations, which have a 52% detection rate in the United States. This test is not diagnostic.

Lee-Jun Wong, Ph.D. - Lab at Baylor College of Medicine, Houston TX, does a test that involves DNA sequence determination of the entire coding region (test code 3125). They offer another test for large deletions by Chromosomal Microarray Analysis with our Mitochondrial/Metabolic Array (test code 3128). May be useful for those not of Northern European descent. Both are expensive and neither of these tests are diagnostic.

See Gene Tests has a complete listing of labs that test for HFI all over the world, including information on other diagnostic tests.


Liver Biopsy Testing

An invasive test that requires a small sample of liver which can be done in minor surgery. The liver sample is sent to a lab with experience in assaying for aldolase B. This is the best test for HFI and diagnosis is certain.

Dr. Y.T. Chen - Lab does test for enzyme activity in liver biopsy specimens. This test is diagnostic.

Dean Tolan, Ph.D. - Lab does test for enzyme activity in liver biopsy specimens. This test is diagnostic.


Fructose Tolerance Testing (I.V.)

An invasive test that requires a visit to the doctor. Patient is challenged with fructose and blood is taken every few minutes to monitor glucose, phosphate, fructose, etc.

- Lab does I.V. challenge on site. This test is diagnostic.
  Currently we are unaware of any physician or clinic that does this test.

Hydrogen Breath Test

The hydrogen breath test is a safe and noninvasive procedure that may diagnose fructose malabsorption, NOT HFI. Following ingestion of fructose, the hydrogen concentration of the patient’s breath is measured at various time intervals. An increase above baseline hydrogen concentration suggests fructose malabsorption. NOTE: This test has not been shown to be an effective means of diagnosing hereditary fructose intolerance (HFI).