MOLECULAR STUDY PRIMARY CILIARY DYSKINESIA TYPE 1 AND 3 (DNAI1, DNAH5) SCREENING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4025

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	60 days
Information:
Primary ciliary diskinesia type 1 (Kartagener sd) and 3, associate 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 and DNAH5 genes account for up to 38 percent of all cases of primary ciliary dyskinesia. Mutations in the other genes associated with this condition are found in only a small percentage of cases. In many people with primary ciliary dyskinesia, the cause of the disorder is unknown.
Links:
OMIM Entry - # 244400 - CILIARY DYSKINESIA, PRIMARY, 1; CILD1
OMIM Entry - # 608644 - CILIARY DYSKINESIA, PRIMARY, 3; CILD3
Orphanet- Primary ciliary dyskinesia
OMIM Entry - - 603335 - DYNEIN, AXONEMAL, HEAVY CHAIN 5; DNAH5
OMIM Entry - - 604366 - DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 1; DNAI1

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