Invitae Congenital Stationary Night Blindness Panel
Use
The Invitae Congenital Stationary Night Blindness Panel analyzes genes associated with congenital stationary night blindness, characterized by impaired night vision, delayed adaptation to dark environments, photophobia, and poor visual acuity. The panel helps confirm a CSNB diagnosis and guide treatment decisions. Genetic testing aids in recurrence-risk assessment and genetic counseling. It is useful for both diagnosis and management of the condition as well as informing family members about potential risks.
Special Instructions
Testing requires a genetic sample from the patient; Invitae provides specimen collection kits upon request. Genetic counseling is recommended post-test to interpret results and discuss further options. Contact Invitae's client services for specific inquiries regarding tests, results, or procedures.
Limitations
This test does not analyze variants outside the clinically important regions or non-coding sequences unless specified. Structural rearrangements may not be detected. Results may not reflect the patient's constitutional genome in cases of bone marrow transplant or recent blood transfusion.
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)