Invitae Comprehensive Deafness Panel
Use
The Invitae Comprehensive Deafness Panel is designed for genetic testing of genes associated with both syndromic and non-syndromic deafness. These disorders are genetically heterogeneous and characterized by varying degrees of deafness that can begin in early adulthood, childhood, or infancy. This test helps in diagnosing the cause of deafness and aids in guiding treatment and management decisions. Identification of a pathogenic variant can inform recurrence-risk assessment and genetic counseling. Additional conditions unrelated to this panel are excluded.
Special Instructions
The test includes common deletions in GJB6, known as ∆GJB6-D13S1830 and ∆GJB6-D13S1854. Contact Invitae client services for questions about specific gene analyses or limitations. Consultation of the test definition on the website is recommended for details about variant types covered or excluded.
Limitations
This panel may not detect certain types of variants such as structural rearrangements, inversions, gene conversion events, and translocations, especially if they are embedded in complex sequence architectures like short tandem repeats or segmental duplications. Variants in the promoter, non-coding exons, and other non-coding regions are generally not covered unless explicitly mentioned. Some variants may not be resolved due to mosaicism, phasing, or mapping ambiguity.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)