Lab tests
Genetic test report explainer
A genetic test report writes each finding in a compact notation of letters and numbers, then sorts it into one of a fixed set of categories whose names are easy to misread. Add your report below to see the gene, the variant and the laboratory's classification set out row by row, with each term defined.
Explain your genetic test report
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- 3. Read itSummary, table of results, terms and questions to ask.
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What you get
- Each reported variant on its own row: gene, variant name, zygosity and classification.
- The classification quoted exactly as the laboratory wrote it, then defined.
- Notation such as c. and p., and words such as heterozygous and homozygous, explained.
- Questions to take to your genetic counselor or the doctor who ordered the test.
Wording you may see on a genetic test report
- VariantA difference in a gene compared with a reference sequence; older reports say mutation
- Pathogenic and likely pathogenicThe laboratory's classification for a variant it considers disease-causing, or probably so, on current evidence
- Benign and likely benignThe classification for a variant the laboratory considers not disease-causing, or probably not
- Variant of uncertain significance (VUS)There is not enough evidence to place the variant in either group
- Heterozygous and homozygousThe variant was found in one copy of the gene, or in both copies
- CarrierA person with one copy of a variant for a condition that is inherited in a recessive way
- Negative, or no variants detectedNothing reportable was found in the genes and regions this test covered
What this tool cannot tell you
A classification is the laboratory's reading of the evidence available on the report date, and laboratories do sometimes reclassify a variant later. What a finding means for a person or their relatives depends on the gene, the condition, the family history and the limits of the test, and working that out is the job of a genetics professional. MedicDecode defines the terms and restates the report. It does not estimate risk, say whether relatives should be tested, or advise on screening, treatment or family planning; please go through the report with a genetic counselor or your doctor.
Common questions
What does variant of uncertain significance mean?
It is a formal category, not a vague remark. The laboratory found a variant, but the evidence available is not enough to classify it as either pathogenic or benign. Your genetics team can tell you how they treat a finding in this category.
What does carrier mean on a report?
In report wording, a carrier is someone in whom one copy of a variant was found for a condition that needs two copies, one from each parent, to cause it. The report states this as a finding about the sample. What it means for you or your family is a conversation to have with a genetic counselor.
Does a negative result mean nothing was missed?
A negative report covers only the genes, and the kinds of change, that the test was designed to look at, and most reports list those limits. It is a statement about what this test did not find. Your clinician can explain what was and was not covered.
Words you may see on this report
Tap a word for its plain-English meaning, an example line and what it does not mean.
- ALT (Alanine Aminotransferase)
ALT is an enzyme found mainly in the liver; when liver cells are irritated or damaged, more ALT leaks into the blood.
- AST (Aspartate Aminotransferase)
AST is an enzyme found in the liver, muscles, heart and other tissues; raised levels can signal stress or damage in one of these.
- Bilirubin
Bilirubin is a yellow substance made when old red blood cells break down; the liver processes it so it can leave the body.
- Creatinine
Creatinine is a waste product from normal muscle activity that the kidneys filter out, so its blood level helps show how well the kidneys work.
- CRP (C-Reactive Protein)
CRP is a protein made by the liver that rises quickly when there is inflammation or infection in the body.
- Culture and Sensitivity
A culture and sensitivity test grows germs from a sample to identify them, then checks which antibiotics can stop them.
- eGFR (Estimated Glomerular Filtration Rate)
eGFR is an estimate of how well your kidneys filter waste from your blood, calculated from a creatinine blood test plus details like age.
- Electrolytes
Electrolytes are minerals in the blood, such as sodium, potassium and chloride, that carry an electric charge and help the body work.
- ESR (Erythrocyte Sedimentation Rate)
ESR measures how fast red blood cells sink in a tube of blood over an hour; a faster rate can be a general sign of inflammation.
- Fasting Sample
A fasting sample is blood taken after you have had nothing to eat or drink except water for a set number of hours.
- Ferritin
Ferritin is a protein that stores iron; its blood level gives a good idea of how much iron the body has in reserve.
- HbA1c
HbA1c shows your average blood sugar over roughly the past two to three months by measuring how much sugar is attached to red blood cells.