Invitae Cystinosis Test
Use
The Invitae Cystinosis Test analyzes the CTNS gene associated with cystinosis, characterized by cystine crystal accumulation in tissues. It assists in diagnosing suspected cystinosis, enabling accurate risk assessment and determining carrier status for at-risk relatives. The test is important for identifying disease-causing variants, allowing for potential early intervention and management of the disorder. Treatment options such as cystine depletion therapies can prevent systemic complications, improving long-term survival. For individuals with early treatment, survival into the sixth decade is possible.
Special Instructions
Not provided.
Limitations
This test covers clinically important regions of the CTNS gene, focusing on coding exons and adjacent intronic sequences. While it provides high analytical sensitivity and specificity for SNVs, insertions, and deletions, it may not fully detect structural rearrangements, variants in non-coding regions, or single-exon copy number events in rare situations. Validation studies show >99% sensitivity and specificity for certain small variants, but larger indels and copy number variations may have marginally reduced sensitivity. Variants with complex sequence architecture and non-constitutional DNA sources could limit analysis.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
CTNS
Gene
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)
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