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Test Code FHEXV Familial Hypercholesterolaemia (FH) Extended Genetic Panel; Specific Variant Genetic Testing

Important Note

This test is intended for targeted analysis of a known FH variant, and is suitable for cascade testing of at-risk relatives. For proband testing, please select: Familial Hypercholesterolaemia (FH) Extended Genetic Panel; Proband.

This Level 3 CGTS test should be ordered by a medical practitioner qualified in clinical genetics or with specialised training in FH genetics, or by a competent genetic counsellor under the supervision of such a medical practitioner. Appropriate pre-test genetic counselling and completion of the Genetic Testing Consent Form* are required. 
*In Procedure Specific Description, select “Specific Variant Testing” and enter “FH EXT VARIANT” as the test name.

Additional Codes

Epic Ordering Code LAB305395
NBS code LBC13708
Service code 1033070

Specimen Requirements

Submit the following: 

 

Required:

Purple Top

Collection Instructions: Completion of the Genetic Testing Consent Form is required for this test. Please submit the completed form along with the sample request form.

Processing Requirements

Specimen type: Whole Blood

Container/Tube: Lavender Top (EDTA)

Volume: 3.0 mL

Storage/transport requirements: Ambient or refrigerated

Specimen Stability

Specimen Type Whole Blood
Ambient 3 days
Refrigerate 7 days

Specimen Condition

Clotted, Haemolysed, Frozen Reject
Anticoagulant other than EDTA Reject
Improperly labelled specimen Reject

Methodology

Next-generation sequencing (NGS) with targeted variant(s) analysis

Test Limitations

This assay assesses only the specific variant(s) requested and will not report any other variant. A negative result does not exclude a genetic diagnosis from other genetic or non-genetic causes. Polygenic risk factors, epigenetic alterations, and environmental contributors are not assessed.

 

Results should be interpreted in the context of the patient's clinical and family history and the genetic findings in the proband. Clinical correlation remains essential for accurate diagnosis and patient management.

Days and Times Performed

TAT 4 weeks

Reference Interval

An interpretive report will be provided.

Testing Laboratory

National University Hospital
Genomics Diagnostic Laboratory, 6772 4384

Useful For

Targeted testing for a known familial pathogenic / likely pathogenic variant identified in an affected relative (proband), to determine whether at-risk family members carry the same variant.

Update

Last updated 21/10/2026

Test Info

(a)  This test was developed by NUH Laboratory Medicine.

(b) This laboratory test has undergone in-house evaluation with appropriate quality assurance and control measures in line with laboratory best practice and accreditation requirements.