Preferred Sample Type
Suitable Specimen Types
- Serum
Sample Processing in Laboratory
First class post.Sample Preparation
Store frozenTurnaround Time
3-4 weeksSample Stability
4 ºCFamilial dysalbuminaemic hyperthyroxinaemia Screen (FDH)
General Information
Familial dysalbuminemic hyperthyroxinemia (FDH)1 is a well-characterized condition associated with increased circulating total thyroxine (T4) concentrations and normal physiological thyroid function. It is caused by mutations in the ALB (albumin) gene that increase the affinity of albumin for T4.
Is is an inherited characteristic involving increased levels of thyroxine in the blood and abnormal serum blood despite normal thyroid gland functioning. The condition may be mistaken for hyperthyroidism.
Patient Preparation
Previous thyroid function tests must have been performed.
Notes
Please send clinical details and any previous thyroid function test results, including assay method.
A larger sample volume may be necessary if other specialist thyroid assays are required eg equilibrium dialysis free T4
Reference Range
Interpretation provided by Reference Lab
Source of Reference Range
N/ASpecifications
- EQA Scheme?: Yes
- EQA Status: No formal EQA scheme available. Where possible, samples exchanged with other national/international centres. Appropriate internal quality assurance procedures in place.