Skip to main content

DNA testing for Porphyria

DNA testing for Porphyria

Rose Window — DNA cross-sectionThe Mount Sinai Genetic Testing Laboratory in New York City is proud to announce availability of DNA testing forseven porphyrias, including Acute intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), familial Porphyria Cutanea Tarda (f-PCT), Hepatoerythropoietic Porphyria (HEP), Erythropoietic Protoporphyria (EPP) and Congenital Erythropoietc Porphyria (CEP). This is the only laboratory in the United States that offers DNA testing for all of these porphyrias. The testing program was developed with a grant from the American Porphyria Foundation. We thank the Porphyria patients who sent us their blood to develop and validate these tests.
Before requesting DNA testing, it is recommended that patients have biochemical testing (urinary, stool and/or plasma porphyrins and porphyrin precursors (ALA and PBG) and/or enzyme assays). However, many patients have not had an acute attack or are not symptomatic at present, so biochemical testing may be inconclusive.
In contrast, DNA testing is the most accurate and reliable method for determining if a person has a specific porphyria and is considered the "gold standard" for the diagnosis of genetic disorders. If a mutation (or change) in the DNA sequence is found in a specific Porphyria-causing gene, the diagnosis of that Porphyria is confirmed. DNA analysis will detect more than 97% of known disease-causing mutations. DNA testing can be performed whether the patient is symptomatic or not and requires only a small amount of blood sent to the laboratory at room temperature. Once a mutation has been identified, DNA analysis can then be performed on other family members to determine if they have inherited that Porphyria, thus allowing identification of individuals who can be counseled about appropriate management in order to avoid or minimize disease complications.
It is important for patients to realize the limitations of DNA testing. Each porphyria is caused by a mutation in the DNA sequence of a specific gene. Thus, the diagnosis of a specific porphyria determines what gene to test. Diagnosis of the specific porphyria can be difficult because the three acute porphyrias (AIP, HCP, VP) typically have similar acute symptoms, biochemical findings, and responses to treatment. This means, for example, that if a patient has been given the diagnosis of AIP and no AIP gene mutation is identified, it is possible that the patient has a different acute Porphyria. For patients with symptoms of an acute porphyria, but without a specific diagnosis, we offer a "triple test," which includes DNA testing for the three major acute porphyrias (AIP, HCP, and VP).
DNA testing involves sophisticated DNA sequencing which is multi-procedural, labor intensive, and expensive. In the porphyrias, there are no common mutations so the entire gene must be sequenced in each new family.
The cost for DNA testing for one specific porphyria is $802 to $922, depending on the specific porphyria being tested. Once a mutation is identified, the cost for DNA testing of other family members is $226 per person. For patients with symptoms of an acute porphyria, but whose specific porphyria has not been identified, the “Acute Porphyrias Panel” for analysis of the genes causing the three acute porphyrias can be performed for $1882, a savings of $700 over sequencing each gene separately. Results from DNA testing are typically available in 2 to 4 weeks.
The Mount Sinai Genetic Testing Laboratory, Porphyria DNA Testing Laboratory accepts some insurance; please contact the genetic counselor at the laboratory for current information. Alternatively, payment can be made by credit card or check, which must accompany the patient's blood sample. A receipt will be provided, but depending on the patient's insurance company and policy, the reimbursement will vary and some companies will not pay for Porphyria testing at all. By New York State regulation, DNA testing for any genetic disorder must be ordered by a physician who also must sign the requisition form and who will receive the results. A patient must also read and sign a consent form which explains DNA testing and offers counseling.
Please contact the genetic counselor, Dana Doheny, MS, CGC, by email ( or or telephone (212-659-6779, direct-line; 866-322-7963, toll-free) for the required forms (including sample requirements, shipping instructions, test requisition, and consent form), to arrange for testing, and/or for additional information.

The Mount Sinai Genetic Testing Laboratory, Porphyria DNA Testing Laboratory, Department of Genetics & Genomic Sciences, The Mount Sinai School of Medicine, 1425 Madison Avenue, Room 14-74, Box 1498, New York City, NY 10029-6574.


  1. Thanks for sharing valuable information about DNA testing for porphyria. DNA test is really helpful to detect future health.
    Original Gene


Post a Comment

Popular posts from this blog


GLOBAL PORPHYRIA ALLIANCE The APF is proud to support our members that live across the globe. Many countries around the world have developed organizations to support their local communities. We hope that enjoy the same opportunity to communicate with one another, develop friendships, and learn about porphyria. Here are links to patient advocacy groups worldwide that offer support to individuals impacted by porphyria. Argentina: Centro de investigaciones sobre porfirinas y porfirias | More informationAustralia: Porphyria Association, Inc. | More informationBrazil: Associação Brasileira de Porfiria | More informationCanada: Canadian Association for Porphyria | More informationColombia: Fundación Colombiana Para La Porfiria | More informationDenmark: (Porphyria Association Denmark)Denmark: (Danish Porphyria Support Group)England: British Porphyria AssociationFinland: Finnish Porphyria Support Group France: Association Française des Malades Atteints de Por…


What could it be?
Nerve Pain WHAT IS NEUROPATHIC PAIN? Neuropathic or nerve pain (NP) is a long-term or chronic pain disease that results from nerve damage. It can be caused by different diseases or conditions. Worldwide nerve pain affects as many as 26 million people. Neuropathic or nerve pain may affect larger areas of the body or it can be restricted to a smaller area, in this case it is called localized neuropathic pain (LNP). WHAT CAUSES NEUROPATHIC PAIN? Neuropathic or nerve pain may occur in the absence of an obvious visible cause (e.g. an accident, an injury, a chemical burn). There are several external situations that can directly damage nerves and lead to neuropathic pain, such as: Amputation of a limb (phantom pain, stump pain)Surgery (scar pain, post-surgery pain)Trauma or accident Neuropathic pain is also a common complication of other diseases, including nerve damage after shingles or herpes zoster infection (postherpetic neuralgia or PHN), nerve damage after HIV infectio…

Happy Winter Season!

                  Happy Winter Season!