You can now receive FREE genetic testing (DNA) and counseling for acute porphyria. DNA can tell a person if they carry a mutation in a gene associated with a predisposition for acute porphyria. This opportunity can shorten the time to diagnosis and prevent misdiagnosis.
How does it work?
- Genetic testing is ordered by your physician.
- Results are then reported to your physician ONLY (No other organization will receive any identifiable information regarding a patient or their results)
Who is eligible?
- Patients must meet eligibility from at least one of the following criteria:
Elevated Urinary Porphobilinogen (PBG)
Unexplained recurrent (more than one), prolonged (>24 hours) episodes of severe, diffuse abdominal pain AND at least 2 of the following:
- Red to brownish urine, OR
- Known or suspected family history of an acute hepatic porphyria, OR
- Blistering skin lesions on sun-exposed areas, OR
- Peripheral nervous system manifestations occurring around the time of abdominal pain (i.e. motor neuropathy (paresis), sensory neuropathy (numbness, tingling, limb pain),OR
- Central nervous system manifestations occurring around the time of abdominal pain (i.e. confusion, anxiety, seizures, hallucinations), OR
- Autonomic nervous system manifestations occurring around the time of abdominal pain (i.e. hyponatremia, tachycardia, hypertension, nausea and vomiting, constipation)
This program was developed to reduce barriers to genetic testing and counseling and to help people make more informed decisions about their health.
Contact the APF at 1-866-APF-3635 or 713-APF-3635 to guide you through the process.