Tyrosinemia Follow Up Panel, Blood Spot
Use
This test is used for monitoring individuals with tyrosinemia type 1 (HT-1) and for diagnosing HT-1 when used in conjunction with tests such as urine organic acids, liver function tests, alpha-fetoprotein, and molecular genetic analysis of the fumarylacetoacetate hydrolase (FAH) gene. It assists in monitoring the effectiveness of NTBC (nitisinone) and dietary therapy in patients with HT-1.
Special Instructions
Not provided.
Limitations
In rare cases of tyrosinemia type 1, tyrosine or succinylacetone may not be elevated, which could affect the diagnosis. Additionally, bornaprine (Sormodrem) may potentially interfere with the measurement of NTBC, leading to inaccurate results.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 94573-3 - TYR NBS f/u + monitor Pnl DBS
- 35571-9 - Tyrosine DBS-sCnc
- 29573-3 - Phe DBS-sCnc
- 47700-0 - Methionine DBS-sCnc
- 53231-7 - Succinylacetone DBS-sCnc
- 85098-2 - NTBC DBS LC/MS/MS-sCnc
- 18771-6 - Provider signing name
- 42349-1
Result Turnaround Time
3-5 days
Related Documents
For more information, please review the documents below
Specimen
Dried Blood Spot
Volume
2 Blood spots
Minimum Volume
1 Blood spot
Container
Blood Spot Collection Card
Collection Instructions
Let blood dry on filter paper at room temperature in a horizontal position for a minimum of 3 hours. Do not expose specimen to heat or direct sunlight. Do not stack wet specimens. Keep specimen dry.
Causes for Rejection
Blood spot specimen that shows serum rings or has multiple layers; insufficient specimen; unapproved filter papers.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 14 days |
| Frozen | 90 days |