The second step in diagnosis requires certain tests to confirm the diagnosis and rule out other possible diseases. The initial tests include blood and urine samples for uric acid. If these tests reveal high uric acid levels, then suspicion for Lesch-Nyhan disease goes up. Uric acid is considered a screening test for Lesch-Nyhan disease. Uric acid levels alone are not sufficient for definitive diagnosis. The reason is that there are some other diseases where uric acid levels are also high, and some children with Lesch-Nyhan disease do not have high uric acid levels.
Confirmatory tests include measurements of the HPRT gene and protein activity. A fresh sample of blood should be collected and sent to a genetics laboratory to examine the gene. This test provides a definitive diagnosis and allows the lab to devise a test that might be useful for other family members. A fresh sample of blood or a sample of a tiny spot of skin should be sent to a metabolism laboratory to examine the living cells. These tests are the best for predicting how severe the disease could become.
Following is a list of biochemical testing centers for Lesch-Nyhan disease. If you wish your laboratory to be listed here please contact the authors with your name, address, and phone/fax numbers.
Dr Bernard Aral, Dr Jean-Paul Bonnefont, Pr Arnold Munnich
Hôpital Necker-Enfants Malades
Laboratoire de Génétique Médicale
149 rue de Sèvres
75743 Paris Cedex 15, France
Phone: (+33) (0)1 44 49 51
Fax: (+33) (0)1 44 49 51
Email: aral@necker.fr, bonnefon@necker.fr, munnich@necker.fr
Dr Mireille Cossee, Pr Jean-Louis Mandel
HUS- Faculté de Médecine Louis Pasteur
Laboratoire de Diagnostic Génétique
11 rue Humann
67085 Strasbourg Cedex, France
Phone: (+33) (0)3 90 24 33
Fax: (+33) (0)3 90 24 33
Email: mireille.cossee@chru-strasbourg.fr, mandel@igbmc.u-strasbg.fr
Yasukazu Yamada, PhD
Institute for Developmental Research, Aichi Human Service Center
Department of Genetics
Kamiya-cho 713-8
Kasugai, Aichi 480-0392, Japan
Phone: (+81) 568-88-0811
Fax: (+81) 568-88-0829
Email: yasyam@inst-hsc.jp
Rosa Torres Jiménez, MD, PhD
Hospital La Paz
Laboratorio de Bioquímica
Edificio de Laboratorio, planta 2
Paseo de la castellana 261
28046 Madrid, Spain
Phone: (+34) 1 7 27 73 43
Fax: (+34) 1 7 27 7090
J. Patrick O'Neill, PhD
The University of Vermont Genetics Laboratory
Vermont, United States
Phone: (+1) 802-656-8332
Fax: (+1) 802-656-8333
Bruce A. Barshop, MD, PhD and William L. Nyhan, MD
University of California
UCSD Biochemical Genetics Laboratory
San Diego, United States
Phone: (+1) 619-543-5260
Fax: (+1) 619-543-3565
Allen Horwitz, MD, PhD
Reproductive Genetics Insitute
Chicago, United States
Phone: (+1) 773-472-4900
Fax: (+1) 773-871-5221
Following is a list of genetic testing centers for Lesch-Nyhan disease. If you wish your laboratory to be listed here please contact the authors with your name, address, and phone/fax numbers. Additional testing centers can be found at www.genetests.org.
Dr Irène Ceballos-Picot
Hôpital Necker-Enfants Malades
Laboratoire de Biochimie Métabolique
149 rue de Sèvres
75743 Paris Cedex 15, France
Phone: (+33) (0)1 44 49 54
Fax: (+33) (0)1 44 49 51
Email: ceballos@necker.fr
Vanna Micheli, PhD
Universita degli Studi di Siena
Laboratorio di Biochimica Metabolica
Dipartimento di Biologia Molecolare
Via Fiorentia, 1
53100, Siena, Italy
Phone: +39 0577 234916
Fax: +39 0577 234903
Rosa Torres Jiménez, MD, PhD
Hospital La Paz
Laboratorio de Bioquímica
Edificio de Laboratorio, planta 2
Paseo de la castellana 261
28046 Madrid, Spain
Phone: (+34) 1 7 27 73 43
Fax: (+34) 1 7 27 7090
Sabina Galati, PhD
Children's University Hospital
Human Molecular Genetics
Bern, Switzerland
Phone: +41 31 632 94 93
Fax: +41 31 632 94 84
Dr. Chung-Jen Chen M.D.
Chang Gung Memorial Hospital-kaohsiung Medical Center
Department of Internal Medicine, Division of Rheumatology, Allergy and Immunology
Chang Gung University College of Medicine
No 123, Ta-Pei Road
Niao-Sung Hsiang, Kaohsiung Hs, Taiwan
Phone: 886-7-7317123 EXT 88
Fax: 886-7-7322402
Email: chungjen@adm.cgmh.org.tw
Arthur Beaudet, MD and William O'Brien, PhD
Baylor College of Medicine
Biochemical Genetics Laboratory
Houston, Texas 77030, United States
Phone: (+1) 713-798-4982
Fax: (+1) 713-798-8937
Bruce A. Barshop, MD, PhD and William L. Nyhan, MD, PhD
University of California
UCSD Biochemical Genetics Laboratory
San Diego, United States
Phone: (+1) 619-543-5260
Fax: (+1) 619-543-3565