GJB2 sequencing, full gene sequencing-994
This test is orderable only by a genetic counselor.
Test info
Hearing Loss (GJB2)
Confirms a diagnosis of GJB2-related nonsyndromic sensioneural hearing loss; detects carriers.
This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; deep intronic variants or variants outside of the regions targeted by this analysis. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.
This test is orderable only by a genetic counselor.
Specimen
Immediately following collection, mix sample thoroughly by gently inverting 8 - 10, times to prevent clotting
Lavender (EDTA), 4mL x2
CVS
CVS - 20 mg (10 mg minimum)
Sterile plastic conical tube
Two confluent T-25 flasks for fetal testing
Molecular Medicare billing request
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.
Ambient (preferred)
Refrigerated (OK)
Frozen - NO
- Frozen specimen
- Hemolysis
- Quantity not sufficient for analysis (QNS)
- Improper container
Performance
DAN sequencing
Clinical and Interpretive info
An interpretive report will be provided
Billing
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.