MOLECULAR STUDY OTOPALATODIGITAL SYNDROME TYPE 1 (FLNA) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4112

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	40 days
Information:
Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits). Otopalatodigital syndrome type 1 is usually the mildest of the otopalatodigital spectrum disorders. Mutations in the FLNA gene cause otopalatodigital syndrome type 1. This condition is inherited in an X-linked dominant pattern.
Links:
OMIM Entry - # 311300 - OTOPALATODIGITAL SYNDROME, TYPE I; OPD1
Orphanet- Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 1 - Genetics Home Reference
OMIM Entry - - 300017 - FILAMIN A; FLNA

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