Test Name & Code:
• Test Name: CONNEXIN26 Mutations
• Test Code: 3181
• Test Code: 3181
Related Diseases & Genes:
• Bart-Pumphrey syndrome (OMIM #: 149200) || Gene: GJB2 (OMIM #: 121011)
• “Deafness, autosomal dominant 3A” (OMIM #: 601544)
• “Deafness, autosomal recessive 1A” (OMIM #: 220290)
• Hystrix-like ichthyosis with deafness (OMIM #: 602540)
• “Deafness, autosomal dominant 3A” (OMIM #: 601544)
• “Deafness, autosomal recessive 1A” (OMIM #: 220290)
• Hystrix-like ichthyosis with deafness (OMIM #: 602540)
Synonyms:
• Congenital Deafness
• GJB2 Mutations
• CX26 Mutations
• DFNB1 Mutations
• DFNA3A Mutations
• DFNB1A Mutations
• GJB2 Mutations
• CX26 Mutations
• DFNB1 Mutations
• DFNA3A Mutations
• DFNB1A Mutations
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 2-3 weeks
• 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
• 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):
• Dsymorphology
