Kartagener Syndrome Primary Ciliary Dyskinesia [CILD1 (DNAI1) Gene DNA Sequence Analysis] – Duzen Laboratories Group Genetic Diseases Evaluation Center

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Test Name & Code:

• Test Name: Kartagener Syndrome Primary Ciliary Dyskinesia [CILD1 (DNAI1) Gene DNA Sequence Analysis] • Test Code: 4008

Related Diseases & Genes:

• “Ciliary dyskinesia, primary, 1, with or without situs inversus” (OMIM #: 244400) || Gene: DNAI1 (OMIM #: 604366)

Synonyms:

• IMMOTILE CILIA SYNDROME; ICS
• POLYNESIAN BRONCHIECTASIS

Test Details:

• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 2-3 weeks

Specimen Details:

• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

Testing Area(s):

• Dysmorphology
• Multisystem Diseases