Invitae Achromatopsia Panel
Use
The Invitae Achromatopsia Panel analyzes genes associated with achromatopsia, characterized by low visual acuity, photophobia, nystagmus, and a partial or total absence of color vision. Genetic testing of these genes can confirm a diagnosis and help guide treatment and management decisions. Identifying a disease-causing variant can inform recurrence-risk assessment and genetic counseling. Some genes may be associated with additional disorders unrelated to this panel, not included in the list of disorders tested.
Special Instructions
Turnaround time is 10–21 calendar days (14 days on average). Preferred specimen is 3mL whole blood in a purple-top EDTA tube; alternate specimens like saliva, buccal swab, and gDNA are also accepted. The test can be customized by removing genes from the panel.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp. Certain variants, such as structural rearrangements or those in complex regions, may not be detected. Variants outside the clinically important regions, like promoter or non-coding regions, are not covered. In rare cases, sampled DNA might not represent the patient's genome due to factors such as recent transfusions or bone marrow transplants.
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)