The genetic variants analyzed in this panel are closely related to or, potentially, the cause of the major porphyria conditions
Porphyria is a group of rare genetic disorders that affect the production of heme, a component of hemoglobin. Porphyria is caused by mutations in genes involved in the production and regulation of heme, and this panel tests for genetic variants that are known to affect these processes.
This panel is designed for individuals with a family history of porphyria or individuals with symptoms of the condition, such as abdominal pain, skin sensitivity, and neurological symptoms. Genetic testing can confirm a diagnosis, provide information on disease severity and progression, and inform treatment and management decisions. Testing can also inform family planning decisions and provide reassurance for unaffected family members.
The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
- Available in less than 24 hours
- Based on Whole Genome Sequencing
- 10 genes analyzed
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
- Cutaneous porphyria
- Variegate porphyria
- Acute intermittent porphyria
- X-linked erythropoietic protoporphyria
Ce produit est uniquement destiné aux clients qui ont déjà acheté un test MyGenome.