Haemophilia B: Factor 9 (IX) Sequencing

Diagnostic Use

F9 sequencing is indicated if the patient has abnormally low levels of factor IX activity. Since haemophilia B is an X-linked disorder, only males with a F9 mutation are affected (except in rare cases of skewed X-inactivation).

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Synonyms

Hemophilia B

Turnaround Time

4 weeks

Test Code

7302

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4.0

No of Samples Required

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

1.0

Minimum Sample Volume (ml)

0.5

Additional Specimen Information

If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Test Method

Coding regions and flanking intronic sequences of the factor IX gene (F9) are amplified by PCR and analysed by nucleotide sequencing.

Contact Canterbury Health Laboratories on +64 3 364 0484 or email LabInfo@cdhb.health.nz

Uncertainty of Measurement:
Automated bidirectional DNA sequencing has an analytical sensitivity and specificity of >99%. Note that the lower limit of variant detection of sequencing analysis is ~10%, this is important to consider in the case of mosaicism, mitochondrial, and somatic variation that is not expected to be present at 50% or 100%. This analysis will not detect variants located within intronic regions, except at the intron-exon boundaries.

Contact Information

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