MOLECULAR STUDY OCULAR RETINITIS PIGMENTOSA TYPE 2, RP2 GENE , SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4197

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	32 days
Information:
Retinitis Pigmentosa is an eye disease that causes a severe decrease in visual ability, and in many cases leads to blindness. Although born with the disease, it is rarely manifest before adolescence, and almost always does so insidious, so that the patient is not aware of their disease until it is in very advanced stages. The first clinical manifestations expressed are: night blindness, impaired vision in the changes of lighting and bump into things. This disease is chronic, noncommunicable and hereditary dominance. In their mechanism of transmission are recognized all types of Mendelian inheritance: autosomal dominant (AD), autosomal recessive (AR), X-linked recessive and even described a family pattern of Y chromosome-linked inheritance.
Links:
OMIM Entry - # 312600 - RETINITIS PIGMENTOSA 2; RP2
Retinitis Pigmentosa Overview - GeneReviews™ - NCBI Bookshelf
OMIM Entry - - 300757 - RP2 GENE; RP2

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