MOLECULAR STUDY USHER TYPE 2A SYNDROME (USH2A) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4087

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	40 days
Information:
Usher syndrome is a condition characterized by hearing loss or deafness and progressive vision loss. Usher syndrome type II is characterized by hearing loss from birth and progressive vision loss that begins in adolescence or adulthood. The hearing loss associated with this form of Usher syndrome ranges from mild to severe and mainly affects high tones. Affected children have problems hearing high, soft speech sounds, such as those of the letters d and t. The degree of hearing loss varies within and among families with this condition. Unlike other forms of Usher syndrome, people with type II do not have difficulties with balance caused by inner ear problems.
Links:
OMIM Entry - # 276901 - USHER SYNDROME, TYPE IIA; USH2A
OMIM Entry - - 608400 - USH2A GENE; USH2A

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