MOLECULAR STUDY PRIMARY CILIARY DYSKINESIA TYPE 1, KARTAGENER SYNDROME (DNAI1) SCREENING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4024

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	35 days
Information:
Primary ciliary diskinesia, Kartagener type is an autosomal recessive variant of primary cilia dyskinesia which associates respiratory disorders (chronic bronchorrhea with bronchoectasis and chronic sinusitis) with situs inversus. Men may present with infertility because of immotile sperm. Mutations in the DNAI1 gene account for 2-10 percent of all cases of Kartagener syndrome. In many people with primary ciliary dyskinesia, the cause of the disorder is unknown.
Links:
OMIM Entry - # 244400 - CILIARY DYSKINESIA, PRIMARY, 1; CILD1
Orphanet- Primary ciliary dyskinesia Kartagener type Kartagener syndrome
OMIM Entry - - 604366 - DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 1; DNAI1

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