Blog
Laboratory genetics: diagnostics that start with DNA
What is laboratory genetics?
Laboratory genetics is a branch of medical diagnostics that studies a person's hereditary information at the molecular level. It includes the study of DNA, RNA, chromosomes, and genes to identify genetic diseases, predispositions to diseases, metabolic features, drug reactions, and other biological features of the body.
Such studies have become an important tool in modern personalized medicine, especially in the fields of oncology, reproductive medicine, cardiology, endocrinology, and neurology.
When shown genetic testing
infertility or failed IVF attempts
hereditary cancer in the family
suspicion of hereditary diseases in the child
reaction to medication or side effects
pregnancy planning
developmental delay in children
predisposition to metabolic disorders (diabetes, obesity)
Main areas of laboratory genetics
1. Medical-genetic diagnostics
The study is aimed at identifying hereditary diseases. For example:
Elevated phenylalanine levels detected in newborn baby — confirmed phenylketonuria
The patient has a mutation in the gene CFTR — diagnosed cystic fibrosis
A child with a speech disorder has a deletion of 22q11.2, which corresponds to DiGeorge syndrome
2. Oncogenetics
Genetic testing can help assess your susceptibility to developing certain forms of cancer. Examples:
A woman has a mutation in her gene BRCA1 — increased risk of breast cancer
A patient with colon cancer has been confirmed APC mutation — Lynch syndrome
Mutation BRAF determines resistance to targeted therapy in melanoma
3. Reproductive genetics
Used in IVF programs, pregnancy planning, prenatal diagnosis. For example:
The couple is passing by. carrier screening — the risk of having a child with spinal muscular atrophy
NIPT revealed in the fetus trisomy 21 — Down syndrome
Program for selecting embryos with a normal karyotype for transfer
4. Pharmacogenetics
This area studies the individual body's response to drugs. Examples:
The patient has a CYP2C19 mutation - ineffectiveness of standard dosing clopidogrel
In the treatment of depression, poor tolerability was found SSRI due to variations in the SLC6A4 gene
TPMT genetic analysis helped avoid toxicity azathioprine
5. Nutrition and sports genetics
Genetic analysis allows you to adapt your lifestyle. For example:
The patient has been diagnosed with intolerance lactose (LCT gene)
Decreased gene activity MTHFR indicates poor digestion folic acid
The ACTN3 gene showed a preference for power sports
Comparison of laboratory genetics methods
| Method | What does it reveal? | Application |
|---|---|---|
| PCR | Individual mutations | Targeted mutations (CFTR, F5 Leiden) |
| NGS (next generation sequencing) | Gene or genome sequence | Panels of tens to hundreds of genes |
| MLPA | Deletions and duplications | SMA, deletion syndromes, oncogenes |
| FISH | Chromosomal abnormalities | Oncogenetics, prenatal diagnostics |
| CGH arrays | Chromosomal rearrangements | Reproductive genetics, developmental delay |
Advantages of laboratory genetics
Detection diseases at the preclinical level
Construction personalized treatment plan
Possibility prevent complications
Safe selection of medications and dosage
A reliable base for pregnancy planning
Reducing costs of ineffective treatment
Laboratory genetics opens up a new level of understanding of health. It is not just technology — it is an approach to medicine, where each analysis takes into account the individuality of the organism. And the earlier a step is taken towards diagnostics at the DNA level — the greater the chances for a quality life.
