Getting tested for CTX

If you are worried about CTX, talk to your doctor

If you suspect that you or your child may have CTX, talk to your doctor. Show your doctor this website and talk about all the symptoms that are worrying you. If you are the parent of a child who may have CTX, talking to the pediatrician, gastroenterologist, or eye doctor (if he/she has been treated for cataracts) would be a good place to start. For a teenager or adult you may want to talk to an internist or neurologist who is familiar with the symptoms.

Your doctor may be able to rule out CTX, but if not he/she may recommend further testing.

A simple test for cholestanol can help identify CTX

The first step in identifying CTX is a blood test for cholestanol. This test can be ordered by any doctor, but some may prefer to refer possible CTX cases to a metabolic specialist or geneticist. The cholestanol test involves an ordinary blood draw, which can be done at any blood lab. The blood is then tested in a specialty lab. If the test finds low levels of cholestanol, CTX is unlikely. If levels of cholestanol are significantly elevated, CTX is a possibility.

Genetic testing for CTX

If a blood test shows high levels of cholestanol, genetic testing may be done to confirm CTX. Because CTX is a genetic disease, it can run in families, so family members of people with confirmed CTX may also benefit from testing to see if they or their children are at risk.

Many different kinds of doctors care for people with CTX

Because CTX has many signs and symptoms many different kinds of doctors are involved. Metabolic specialists, geneticists, dermatologists, gastroenterologists, lipidologists, endocrinologists, and internists have all provided excellent care for people with CTX.

Find a CTX specialist

Although any metabolic specialist or geneticist will have access to the information and tests necessary to identify CTX, the doctors listed below all have experience with this rare disease and may be able to offer advice or care for people with newly diagnosed CTX.

CTX Experts:

Robin L. Bennett, MS, CGC, DSc Hon
Senior Licensed Genetic Counselor
Manager of Program Operations Co-Director, Genetic Medicine Clinic
Clinical Associate Professor

Department of Medicine
University of Washington Medical Center
Medical Genetics, Box 357720
Seattle, WA 98195-7720

Tel: 206-598-4030 (appointments)
Tel: 206-598-8408 (direct)
P. Barton Duell, MD
Director, Lipid Disorders Clinic and Lipid-Atherosclerosis Laboratory

Oregon Health and Science University
3181 SW Sam Jackson Park Road, L465/L607
Portland, OR 97239

Tel: 503-494-2007

Suman Jayadev, MD
Assistant Professor of Neurology

University of Washington
1959 NE Pacific Street
Box 356465
Seattle, WA 98195

Tel: 206-221-2930
Yasushi Kisanuki, MD
Assistant Professor

Neurogenetics Disorders Clinic
Department of Neurology
The Ohio State University Wexner Medical Center
395 W 12th Avenue, 7th Floor
Columbus, OH 43210

Tel: 614-293-4969
Shailesh B. Patel, BM, ChB, DPhil, FRCP

Division of Endocrinology, Metabolism and Clinical Nutrition
Medical College of Wisconsin
HRC 4850
8701 Watertown Plank Road
Milwaukee, WI 53226

Tel: 414-955-5645
William B. Rizzo, MD

Department of Pediatrics
University of Nebraska Medical Center
985456 Nebraska Medical Center
MMI 3062
Omaha, NE 68198-5456

Tel: 402-559-2560
Gerald Salen, MD

125 Hendrickson Street
Haworth, NJ 07641

Tel: 201-384-9258
Joseph Quinn, MD
Professor of Neurology
Genetics and Biomarker Core Director

Oregon Health and Sciences University
Layton Aging & Alzheimer's Disease Center
Center for Health & Healing
3303 SW Bond Avenue
Portland, OR 97239-3098

Tel: 503-494-6976

Note that Retrophin, Inc. lists the above-named physicians for information purposes only, and does not endorse or guarantee in any way the services or advice provided by them.

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