The following table is a listing of laboratories that provide DNA and/or biochemical tests for Lowe Syndrome.
Note: Please check with each individual laboratory for the most up-to-date information regarding tests, financial considerations, and other possible restrictions. (For example, some labs in Europe may not be able to provide services to people outside of Europe.) For other online lists of testing laboratories, see the links at the bottom of this page.
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Laboratory
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Mutation |
Linkage |
Biochemical |
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DNA obtained from blood
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Direct sequencing of mRNA (cDNA)
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| United States | ||||
| Biochemical Genetics Laboratory Baylor College of Medicine, Room T-530 One Baylor Plaza Houston Texas 77030 tel: 713-798-4982 (toll-free in U.S.: 1-800-246-2436) fax: 713-798-8937 e-mail: bioc@bcm.tmc.edu |
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| DNA Diagnostic Laboratory Baylor College of Medicine, Room T-530 One Baylor Plaza, Room 205D Houston Texas 77030 tel: 713-798-6536 (toll-free in U.S.: 1-800-226-3624) fax: 713-798-6584 e-mail: dnalab@bcm.tmc.edu |
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| United Kingdom | ||||
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St Mary's Hospital (Manchester) |
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| France | ||||
| Biochimie de l'ADN CHU Grenoble 217X 38043 Grenoble France tel: +33 (0)4 76 76 55 73 fax: +33 (0)4 76 76 58 37 e-mail: jlunardi@chu-grenoble.fr |
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| Netherlands | ||||
| Erasmus Universiteit (Rotterdam) Afdeling Klinische Genetica Dr. Molewaterplein 50 NL-3015 GE Rotterdam Netherlands tel : +31.10.4087197 fax : +31.10.4089489 e-mail : vandenouweland@kgen.fgg.eur.nl dnadiagnostiek@kgen.fgg.eur.nl |
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| Portugal | ||||
| Centro de Genetica Humana-Laboratorio de Biologia
Molecular Instituto Nacional de Saude Dr. Ricardo Jorge Avenida Padre Cruz P-1649-016 Lisboa Cedex Portugal tel: +351-21-75-19-234 fax: +351-21-75-90-441 e-mail: paula.faustino@insa.min-saude.pt m.guida.boavida@insa.min-saude.pt |
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If Requested |
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Legend
Mutation Detection
This column describes the type of patient sample and the method of direct
testing the lab can perform to look for alterations in the Lowe syndrome
gene. Direct sequencing of mRNA (cDNA) generally requires culture of
skin fibroblast cells obtained by skin biopsy.
Linkage Analysis
Linkage Analysis is the process of determining whether a gene has been
inherited by tracing the inheritance of other normal DNA variations
near ("linked to") the presumably mutated Lowe syndrome gene.
Linkage Analysis is used in situations where a gene mutation has not
been identified, even though
analysis of the family tree indicates that X-linked Lowe syndrome is
being inherited in the family.
Biochemical Assay
Indicates the lab can perform a biochemical assay to test for deficiency
of the PIP2 5-phosphatase enzyme. Requires culture of skin fibroblast
cells obtained by skin biopsy.
Other Online Sources of Information
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