Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel
Use
The Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel analyzes genes associated with changes in eye size and abnormalities in the anterior segment, including the iris. This broad panel tests for genetic heterogeneity in MAC and anterior segment dysgenesis, aiding in diagnosis and treatment guidance. Identification of variants through genetic testing informs recurrence-risk assessment and genetic counseling, even recognizing genes associated with unrelated disorders outside the panel's focus.
Special Instructions
Preferred specimen is 3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA), with alternate specimens including saliva, buccal swab, and gDNA. Check the website for specific coverage and limitations regarding genes and variant types analyzed. Contact client services for questions about specific variants or analysis limitations.
Limitations
The test uses NGS to cover coding exons and adjacent intronic sequences, with limitations in detecting structural rearrangements or variants in non-coding regions not explicitly covered. Sensitivity for single-exon copy number events may occasionally be marginally reduced, with rare cases where certain types of variants or details about them cannot be resolved, such as mosaicism or phasing. Sequence changes in promoter or other non-coding regions are generally not analyzed unless specified.
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)