Casandra
Casandra Test Code QD52342Version 1 (DRAFT)
Performing Lab
Connexin Related Deafness Evaluation
Also known as: deafness, autosomal recessive 1A, Connexin 26/Connexin 30, DFNB1A, gap junction protein
Clinical Use
Order TestUse
Not provided.
Special Instructions
Not provided.
Limitations
Not provided.
Test Details
Methodology
PCR-based (PCR)
Biomarkers
GJB2
GeneSNV/Indel • Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
1 mL
Container
EDTA lavender‑top tube
Collection Instructions
Collect blood specimen in a EDTA lavender top tube.
Storage Instructions
Room temperature up to 24 hours or 2‑8 °C up to 5 days
Causes for Rejection
Hemolyzed blood sample. Fresh tissue (POC) or paraffin embedded specimens are not acceptable.
Related Tests
Other tests from different labs that may be relevant
Connexin 26 (GJB2) Sequencing and Deletion/Duplication
ARUP Laboratories
GJB2 Sequencing, Full Gene Sequencing
Labcorp
Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions
ARUP Laboratories
GJB2 Sequencing, Family-targeted (Single Exon Sequencing−Known Mutation)
Labcorp
GJB2 Regulatory Element Deletion Testing (GJB6-D13S1830 and GJB6-D13S1854)
Prevention Genetics
Hereditary Hearing Loss and Deafness Panel
Prevention Genetics
Comprehensive Hearing Loss NGS Panel + mtDNA
Labcorp
Invitae Comprehensive Deafness Panel
Invitae Corporation
Mitochondrial Nonsyndromic Hearing Loss and Deafness Mutation Panel
Baylor Genetics
AudioloGene Hearing Loss Panel, Varies
Mayo Clinic Lab