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Test Code FHEXP Familial Hypercholesterolaemia (FH) Extended Genetic Panel; Proband

Important Note

This test is intended for proband testing. For targeted/cascade analysis of a known FH variant, please select: Familial Hypercholesterolaemia (FH) Extended Genetic Panel; Specific Variant Testing.

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 “Whole Exome Sequencing / Whole Genome Sequencing” and enter “FH EXT PROBAND” as the test name.

Additional Codes

Epic Ordering Code LAB305394
NBS code LBC13707
Service code 1033069

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

Whole exome sequencing (WES) with targeted panel analysis 

Test Limitations

•     >99% sensitivity and specificity for SNVs, insertions and deletions up to 15 bp in length.
•    Variants outside the validated reportable range may not be detected.
•    Reduced sensitivity may occur in regions with poor coverage, low mapping quality, high homology, pseudogenes, repetitive sequences, or extreme GC content.
•    Deep intronic and other non-coding regulatory variants, large or complex structural variants, mitochondrial variants, methylation abnormalities, uniparental disomy, and low-level mosaicism are not assessed.
•    Polygenic hypercholesterolaemia, variants in genes not included in the assay, and non-genetic contributors to the phenotype are not evaluated.
•    A negative result does not exclude a genetic cause of disease.
Results should be interpreted in the context of the patient's clinical presentation, lipid profile, family cardiovascular disease history, and other relevant investigations. 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

Genetic evaluation of individuals with suspected familial hypercholesterolaemia (FH) and/or related inherited lipid disorders, including sitosterolaemia and other monogenic conditions presenting with hypercholesterolaemia, through targeted analysis of eight genes. Identification of a pathogenic variant may support diagnosis, guide clinical management, facilitate familial screening, and inform genetic counselling.

 

For proband testing under the MOH subsidised Familial Hypercholesterolaemia (FH) National Genetic Testing Programme (3-genes), order NBS code LBC13491.

 

Genes tested: ABCG5, ABCG8, APOB, APOE, LDLR, LDLRAP1, LIPA, PCSK9
*Genes in bold are covered in MOH-subsidised FH testing program

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.

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