Typically, the initial test used to detect Sanfilippo Syndrome is the “Urine MPS Screening,” which detects whether heparan sulfate is present in a child’s urine. However, this test can have false negatives.
This test requires a urine specimen, ideally collected at the laboratory facility and immediately given to lab workers.
A physician can order this lab test.
A blood enzyme assay is considered the most-credible diagnostic tool because it detects whether or not one of the enzymes in the cellular pathway that breaks down heparan sulfate is missing (the functional cause of Sanfilippo Syndrome), providing a definitive answer.
Because of its accuracy, this test is often used to confirm the findings of a positive urine screen.
This test requires a blood draw. Usually from the arm.
This blood enzyme test is ideal for younger patients with whom collecting a viable urine sample for the Urine MPS Screening is difficult or impossible.
Physicians can order a full enzyme assay blood test for Sanfilippo Syndrome, free of charge for eligible patients from BioMarin Pharmceutical Inc., at WhatWouldYouSuspect.com.
Sanfilippo Syndrome is currently not included on any state’s newborn screening public health program. However, a supplemental screening services are available that you can order.
Private Newborn Screening
Eli by Baebies is an expanded newborn screening service that provides additional screening for children up to age 1 for conditions that are not part of standard state screening, including MPS III A & B.
Eli makes it simple:
1). Order your kit online at eliscreen.com;
2). Bring the kit to your healthcare provider and they will collect the needed samples from your newborn; and
3). Ship the samples to Baebies’ lab and you will receive your results within seven days.
The Invitae Mucopolysaccharidosis Type III Panel analyzes a patients genetics for the known genes/mutations associated with Sanfilippo Syndrome.
This test is useful for the diagnosis of patients in whom Sanfilippo is suspected due to clinical symptoms or elevated urinary glycosaminoglycans (GAGs).
There could be instances where a child has a never-before-seen genetic mutation that causes Sanfilippo Syndrome. Because it isn’t a known gene mutation, it would result in a false negative with this test.
Face2Gene is a suite of phenotyping applications that facilitate comprehensive and precise genetic evaluations.
The Face2Gene Clinic app detects phenotypes of more than 7,500 genetic disorders, including Sanfilippo Syndrome, from facial photos a practitioner uploads, automatically calculates anthropometric growth charts, and suggests likely phenotypic traits to assist in feature annotation.
A clinician can review relevant syndrome phenotypes matches to genetic disorders based on gestalt and refine relevance of genetic disorders based on deep phenotyping.