Porphyrias Gene Panel
Dipl.-Biol. Birgit Busse
Porphyrias are caused by enzymatic defects of the hem biosynthesis and result in accumulation and deposition of intermediate products in the tissue. The porphyrias are divided into acute and non-acute porphyrias. Depending on the type of porphyria and exposure to noxious substances, abdominal, neurological and/or cutaneous signs and symptoms are seen. There are clinical and biochemical overlappings between the different types of porphyria making a definite diagnosis difficult. If the metabolic profile of urine and/or stool samples provides no clear evidence for a certain type of porphyria, genetic diagnostics using next generation sequencing (NGS) can be applied for clarification.
All coding exons and their flanking intronic sequences from the genes in the porphyria gene panel are analyzed either by Sanger sequencing or by next generation sequencing (NGS).