Refsum disease (PEX7) sequencing, whole blood

New Test in CIC Catalog

Test Code: 4408

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	30 days
Information:
Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases. Initial signs usually appear around the age of 15, but they can also manifest during childhood or at the age of 30-40 years. The first symptom is hemeralopia (loss of vision in the dark), followed by episods of chronic distal motor polyneuropathy. Other associated signs include perceptive deafness, anosmia, cerebellous ataxia and sometimes, severe intellectual deficiency. Refsum disease is transmitted as an autosomal recessive trait. More than 90 percent of all cases of Refsum disease result from mutations in the PHYH gene. The remaining cases are caused by mutations in a gene called PEX7.
Links:
OMIM Entry - # 614879 - PEROXISOME BIOGENESIS DISORDER 9B; PBD9B
Orphanet- Refsum disease
OMIM Entry - - 601757 - PEROXISOME BIOGENESIS FACTOR 7; PEX7

   Find the record of the test by clicking here