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.

Dean Tolan, Ph.D. - Lab does test for four mutations which has a 85% detection rate. This test is not diagnostic.

Lee-Jun Wong, Ph.D. - Lab does test for two mutations in exon 5, which has a 70% detection rate, and will consider sequence determination of the entire gene.  This test is not diagnostic.

Lei Li, Ph.D. - Lab does test for two mutations which has a 70% detection rate. This test is not diagnostic.

Dr. Tony Fimmel & Prof. Ron Trent - Lab does test for two mutations which has a 70% detection rate. This test is not diagnostic.

See Gene Tests for more information on other diagnostic DNA 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 Tolerant Testing

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.

Cary O. Harding, MD - Lab does I.V. challenge on site. This test is diagnostic.

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).