Invitae Iron Related Disorders Including Anemia Panel
Use
The Invitae Iron Related Disorders Panel analyzes genes associated with inherited disorders of iron metabolism and transport. These conditions are characterized by the accumulation of iron within the body, often leading to serious health issues such as liver damage, heart disease, diabetes, cataracts, neurological problems, and anemia resulting in weakness, fatigue, and pallor. The panel provides a comprehensive evaluation of potentially relevant genes for individuals suspected of having iron-related disorders.
Special Instructions
Ensure that specimens are collected appropriately as specified. Consult the test definition for detailed coverage of coding exons and non-coding variants. For collection kits and additional questions, contact client services.
Limitations
The assay achieves >99% analytical sensitivity and specificity for most variants. However, certain structural rearrangements, complex variants, or single-exon copy number events may not be detected. Variants outside the analyzed regions, such as promoter and some non-coding regions, are not covered. Rare genomic conditions might result in analyzed DNA not representing the patient's constitutional genome.
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)