- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 24 hours; Refrigerated: 1 week; Frozen: Unacceptable
Characteristics: Nonsyndromic hearing loss; paired recessive mutations typically cause congenital deafness while dominant mutations have variable expressivity.
Incidence: Approximately 1 in 6500.
Inheritance: Autosomal recessive or dominant depending on specific GJB2 mutation; the 35delG mutation is autosomal recessive.
Cause: Deleterious GJB2 gene mutations; 35delG is the most common mutation in Caucasians.
Clinical Sensitivity: 80 percent of GJB2 mutations in Caucasians; less in other ethnicities.
Methodology: Invader assay targets the GJB2 35delG mutation using a sequence specific probe and fluorescent resonance energy transfer (FRET) for signal amplification.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. GJB2 mutations, other than 35delG, will not be detected. Mutations in other genes causing nonsyndromic hearing loss will not be detected.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
See Compliance Statement C: www.aruplab.com/CS
|Component Test Code*||Component Chart Name|
|0051383||Connexin 26 (GJB2), 35delG Mutation|
|2001303||CX 35DELG Specimen|