Casandra
Casandra Test Code PG93975Version 1 (DRAFT)
Performing Lab
Congenital Hypothyroidism and Thyroid Hormone Resistance Panel
Clinical Use
Order TestUse
This panel is designed for individuals presenting with features suggestive of congenital hypothyroidism or thyroid hormone resistance without anti-thyroid antibodies. It aims to provide a comprehensive genetic analysis for patients with abnormal thyroid-stimulating hormone (TSH) and/or thyroxine (T4) levels, assisting in precise diagnosis and management of these conditions.
Special Instructions
Not provided.
Limitations
The panel may not detect all genetic causes of congenital hypothyroidism or thyroid hormone resistance, including those due to rare or unknown variants not covered by the methodology. Negative results do not rule out all genetic causes.
Test Details
New York Approved
Methodology
NGS (Targeted)
Biomarkers
No genes
GeneSNV/Indel
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided