PTD-35

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Test Directory -  HFE (HLAH) Genotyping

Synonyms

Haemochromatosis genetics

Clinical Indications

For confirmation of diagnosis of hereditary haemachromatosis when transferrin saturation >50%

Request Form

Combined Pathology Blood form (Yellow/Black or Blue for GP's)

Availability

Analysed by referral lab if specific criteria met

Specific Criteria

Transferrin saturation must be >50% or requested by consultant haematologist

Turnaround Time

7 - 10 days

Specimen

Whole blood (EDTA)

Volume

1 x 7 mL.

Container

Large purple top (EDTA) tube.

Lab. Handling

Send sample via blood transfusion lab. (BTS transport). At least three identifiers required on sample or request will be rejected by NBTS Colindale.

Causes for Rejection

Unlabelled / inadequaltely labelled sample, less than three identifiers on sample
Not meeting specific criteria for analysis.

Limitations

 

Interpretation

See individual reports

        

 

Version 1.0 / January 2013