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A B C D E F G H I J K L M N O P Q

Test Identifier Information

 
Registration CodeFHGS
Method

The LDLR exon in which the proband’s mutation is located is amplified and sequenced.

Diagnostic Use / Indications

Mutations in the LDL receptor gene 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.

External Price$613.01(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Sample Delivery to LabAmbient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 3640 548
Test Availability9am-5pm Monday to Friday
Turnaround TimeWithin 4 weeks
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.

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.

Additional 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).

Delphic Number Test Number4568

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