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Test Code CX 30 KNOWN Connexin 30 Known Mutation

Clinical System Name

Connexin 30 Known Mutation

Synonyms

GJB6

DFNB3

Description

Targeted analysis for GJB6 (connexin 30) sequence variants previously identified through clinical testing of a family member or research testing of the individual.  For full gene sequencing please see Connexin 30 Sequencing.

 

Sample Requirements

Specimen: Whole blood, cord blood

Container(s): Lavender/EDTA, Yellow/ACD A or B

Preferred Vol: 3 mL

Minimum Vol: 1 mL

 

Note: Heparin samples (Green tops) are unacceptable.

 

Specimen: Extracted DNA

Minimum: 10µg

Note: DNA concentration minimum 50 µg/mL; 260/280 ratio 1.70-2.00

  

Specimen: Cultured cells

Acceptable:  Fibroblasts

Container(s): T-25 flasks

Preferred Vol: 2 flasks

Processing Instructions

Reject due to: Heparin

Spin: No

Aliquot: No

Temp: Refrigerate

Storage location: Molecular Genetics box in CPA refrigerator #2

 

Off-site collection: Refrigerate blood samples until ready to ship.  Transport all sample types at room temperature via overnight shipping.

Stability

Specimen Type Temperature Time
Cultured cells Room temp 3 days
Whole blood, extracted DNA Room temp 3-5 days
Whole blood, extracted DNA Refrigerated 7 days
Extracted DNA Frozen ok

 

Note: Whole blood samples > 7days may be submitted to be assessed by our lab for acceptability for testing.

Availability

STAT Performed TAT
Contact lab Monday - Friday 2-3 weeks

 

Performing Laboratory

Seattle Children's Laboratory

Department

Department:  Molecular Genetics Laboratory

Phone: 206-987-3872

 

Lab Client Services: 206-987-2617

 

Lab Genetic Counselors: LabGC@seattlechildrens.org

Reference Range

Interpretive report will be provided.

Methodology

Method: PCR + Sequencing

 

Limitations: This test is for targeted variant analysis only.  Variants must be known.

CPT Codes

81479 (updated 2/3/16 by jconta)

Special Instructions

Please provide copies of proband reports when requesting known mutation analysis for cases NOT performed by Seattle Children's Lab.

 

Links to: GeneReviews: Nonsyndromic Hearing Loss and Deafness, DFNA3; GeneReviews: Nonsyndromic Hearing Loss and Deafness, DFNB1

Requisition

Molecular Genetics

Clinical Utility

Targeted mutation analysis for the Gap Junction Beta-6 Protein GJB6 gene (connexin 30) associated with nonsyndromic hearing loss and deafness (DFNA3).  DFNA3 is characterized by childhood-onset, progressive, moderate-to-severe high-frequency sensorineural hearing impairment. This is an autosomal dominant form of nonsyndromic hearing loss.