Providing education, support, advocacy, and promoting research
for CTX patients, their families, and medical professionals
who treat and study this rare disease.
There are three diagnostic methods for CTX. Individuals are often diagnosed using a combination of these three methods: 1) clinical features, 2) genetic testing, and/or 3) biochemical testing.
Genetic testing uses sequencing and deletion analysis of the CYP27A1 gene and can be done on either blood samples or by collection of genetic material from the saliva or cheek.
Genetic counseling is recommended for families and individuals undergoing testing. If the results of genetic testing are unclear, then biochemical testing is helpful to rule out or confirm the diagnosis.
Behind the Blur – Early-onset bilateral cataracts are a classic hallmark feature for CTX patients. This site provides a free genetic test for CTX at no cost to those who qualify.
Biochemical CTX testing to help diagnose patients with CTX at no cost to qualifying patients. The test measures levels of 7alpha,12alpha-dihydroxy-4-cholesten-3-one which is elevated in people affected with CTX.
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1586 Sumneytown Pike
PO Box 1322
Kulpsville, PA 19443