Test Code FHEXV Familial Hypercholesterolaemia (FH) Extended Genetic Panel; Specific Variant Genetic Testing
Additional Codes
| Epic Ordering Code | LAB305395 |
| NBS code | LBC13708 |
| Service code | 1033070 |
Specimen Requirements
Submit the following:
| Required: |
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Purple Top |
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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.