Congenital Hypothyroidism Genetic Panel
Also known as: Bamforth-Lazarus Syndrome, Congenital Hypothyroidism, Thyroid Resistance
Use
Diagnostic testing
Special Instructions
This assay currently is not available in New York state. Genetic counseling is recommended based on test results. It is crucial to maintain patient consent for genetic testing, a responsibility held by the managing physician.
Limitations
The assay will not consistently detect mosaicism or large chromosomal aberrations that do not change genomic region copy numbers, such as rearrangements and inversions. It does not detect repeat expansions, germline mosaicism below 50%, or certain intergenic variant interactions. False positive or negative results might occur due to factors like rare variants, sex chromosome abnormalities, homology interference, or sample processing errors. Interpretation is restricted by the available variant information and clinical data provided with the sample, which could evolve as genetic understanding advances.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 51969-4
- 51969-4
- 50397-9
- 8251-1
- 80563-0
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
2 mL
Container
lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy.
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |
| Frozen | do not freeze |