Genetic Testing Assistant
Use of this tool requires agreement with our disclaimer.
For guidance on completion click the Info button beside each field
Calculator
Genotype Calculation Results
Scores calculated:
- Family history:
- Physical examination:
- Clinical History:
- LDL-C:
- Fasting triglycerides:
LDL Calculation Details:
- LDL-C Result Type:
- Drug used:
- Treated LDL-C:
- Untreated LDL-C:
Unadjusted Total Score:
Age Adjusted Results:
Based on an age of years
- LDL-C Score:
- Untreated LDL:
Age Adjusted Total Score:
Based on Age Adjusted Score, probability of having a mutation (Class 4 or 5):
Recommendation
Haralambos K, Whatley SD, Edwards R, et al. Clinical experience of scoring criteria for familial hypercholesterolaemia (FH) genetic testing in Wales. Atherosclerosis 2015; 240:190–196.
Info: Patient Age
The criteria are not designed for ages less than 18 years old.
This tool adjusts the LDL-C for age. The age adjustment is valid between 18 and 70 years.
If ages below 18 and above 70 are entered, they will be adjusted to 18 and 70 years respectively.
Info: Family History
Only applies to first and second-degree relatives
- A first-degree relative is defined as a close blood relative which includes the individual's parents, full siblings, or children
- A second-degree relative is defined as a blood relative which includes the individual's grandparents, grandchildren, aunts, uncles, nephews, nieces or half-siblings
Info: Physical Examination
Tendon Xanthomata
These are cholesterol deposits which show up as fatty lumps on the Achilles tendons, knuckles or knees.
Knuckles
Achilles
Corneal Arcus
This is a white ring at the edge of the iris which may be a partial arc or complete ring.
Premature Corneal Arcus is defined as occurring below the age of 45 years.
If patient is slightly older than 45, you may tick this option if you think it is likely that the patient had the arcus prior to the age of 45, but was not examined at that age.
Info: Clinical History
Coronary heart disease (CHD) is regarded as being present if there are symptoms of a coronary syndrome or imaging which demonstrates significant coronary atherosclerosis.
Score for CHD if patient has:
- Myocardial Infarction/Acute Coronary Syndrome (ACS)
- Angina
- Evidence of significant atherosclerosis on coronary angiogram or other coronary imaging
- Re-vascularization procedures (Angioplasty, CABG, PCI)
Info: LDL Result Type
If the untreated LDL-C value is not known, and only a treated value is available, then select ‘treated’.
You will then be asked for the treated value and the associated cholesterol lowering treatment. The web tool will then calculate an estimated pre-treated LDL-C value.
For fuller background information, including the statin correction table, the ‘Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales’ paper is available to read via a link at the bottom of the webpage or here
Info: LDL Value
For the Unadjusted Total Score, the LDL-C will be mapped to the following ranges:
| Scoring criteria | LDL-C boundaries |
| 1 | 4.0 - 4.9 |
| 3 | 5.0 - 6.4 |
| 5 | 6.5 - 8.4 |
| 8 | 8.5 + |
For the Age Adjusted Total Score, the LDL-C will be mapped to the following ranges:
| Scoring boundaries | LDL-C boundaries |
|---|---|
| 1 | 4.0 - 4.6 |
| 2 | 4.7 - 5.3 |
| 3 | 5.4 - 5.9 |
| 4 | 6.0 - 6.6 |
| 5 | 6.7 - 7.3 |
| 6 | 7.4 – 8.0 |
| 7 | 8.1 - 8.7 |
| 8 | 8.8 + |
Info: Fasting Triglycerides
Caution should be taken with the triglyceride calculation.
A negative score for elevated triglyceride is applied unless there is another factor which can lead to triglyceride elevation. For example, hypertriglyceridaemia, diabetes, obesity or excess alcohol.
In these clinical scenarios, the triglyceride can be entered as 0 for the purposes of calculating this score.
Having raised triglycerides (in absence of triglyceride raising factors) reduces the probability of a patient having FH and increases the probability of the individual having polygenic familial combined hyperlipidaemia.