Diagnostic Testing Laboratories
Laboratories listed with a ** are overseen by a porphyria expert who can consult with the referring physician about test results.
CLIA Certified US Molecular Testing Laboratories with a * also have biochemical testing available.
Note: Other labs may also perform biochemical testing for the porphyrias. Not all laboratories test for all types of porphyria, please refer to the laboratory website for details on the types of porphyria they perform genetic testing for. Other labs may also perform genetic testing for the porphyrias, please refer to the Genetic Testing Registry for more information.
University of Texas Medical Branch**
The UTMB Health Porphyria Center has a longstanding interest in the human porphyrias. They focus on research and development of new therapies, and on strengthening the evidence for existing therapies.
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ARUP Laboratories**
ARUP Laboratories is a national nonprofit and academic reference laboratory partnering with hospitals and labs nationwide. It is the primary laboratory for the University of Utah Hospital and Health System clinics.
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Quest Diagnostics
As the world’s leading provider of diagnostic information services, Quest Diagnostics works to uncover insights about your body.
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Mayo Clinic Biochemical Genetics Laboratory
Genetic disorders have become a focal point in laboratory medicine. Approximately 1,000 inborn errors of metabolism (IEM) have been identified to date primarily through the detection of endogenous metabolites abnormally accumulated in biological fluids and tissues. The laboratory discipline that covers the biochemical diagnosis of IEM is Clinical Biochemical Genetics, and is defined as one concerned with the evaluation and diagnosis of patients and families with inherited metabolic disease, monitoring of treatment, and distinguishing heterozygous carriers from noncarriers by metabolite and enzymatic analysis of physiological fluids and tissues
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Mayo Clinic Molecular Genetics Laboratory*
The Mayo Clinic Molecular Genetics Laboratory provides expertise in DNA and molecular genetic testing for both congenital and inherited cancer syndromes.
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PreventionGenetics
Prevention Genetics is a CLIA and ISO 15189:2012 accredited clinical DNA testing laboratory providing patients with sequencing and CNV tests for nearly all clinically relevant genes.
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GeneDx
GeneDx is the leader in delivering clinical genomic answers to an ever-increasing community of patients, families and healthcare providers.
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Invitae
Invitae makes it easy to access your unique genetic information via an interactive, educational portal and access to genetic counselors who can help you understand your results.
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