Familial hypercholesterolaemia: cascade screen for known mutation

Diagnostic Use

Mutations in the LDLR gene (or APOB/APOE/PCSK9) may cause the condition called familial hypercholesterolaemia (FH). When a disease-causing LDLR mutation is identified in a patient (the proband), members of their family can be subsequently screened to determine if they also carry the familial mutation.

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Synonyms

FH
Hyperlipidemia

Turnaround Time

4 weeks

Test Code

4568

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

This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.

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

This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.

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

Interpretation

LDLR mutations show a standard autosomal pattern of inheritance. Providing the DNA sequence quality is acceptable this test is conclusive in determining the carrier status of the patient.

Test Method

The LDLR (or APOB/APOE/PCSK9) exon in which the proband’s mutation is located is amplified by PCR and sequenced by bi-directional Sanger nucleotide sequencing.

Non-Funded Test Cost

$292.44 (Exclusive of GST)

Billing Code

4593

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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