Home / Molecular analyses

Molecular analyses

What a swab or a tube of blood can tell you.

Seven analyses in two groups. From a swab we identify infections and read the bacterial balance that keeps you well. From blood we look at inherited carrier status and at the risks that matter in a pregnancy, early enough to act on them.

A laboratory bench with sample tubes, racks and a pipette Our laboratory, Skopje
Analysed here. Samples are not shipped abroad.
Swab or bloodOne sample, taken in a few minutes
PCR and sequencingMolecular methods, not culture alone
In-houseProcessed and read in Skopje
ExplainedResults read by a clinical geneticist
From a swab

Infections, and the bacteria that keep you well

Not every organism in the body is an enemy. A healthy vagina or urinary tract is dominated by protective bacteria, and trouble usually starts when that balance tips or when a specific pathogen arrives. These four analyses do both halves of the job: they name the pathogens present, and they describe the community around them. All of them are taken with a swab, and all of them are read by PCR and sequencing rather than by culture alone, so organisms that are hard to grow are still found.

HPV

Which type of the virus, not just whether it is there

Human papillomavirus is extremely common and in most people the immune system clears it within a year or two without anything happening. What matters is a persistent infection with one of the high-risk types, because those are what cause cervical cancer over many years. The test identifies which types are present, so a result is actionable rather than alarming.

Types 16 and 18 account for the majority of cervical cancers and are reported separately from the other high-risk types. The virus is carried by men too, usually silently, which is why we test both partners when that is useful.

  • What it readsThe presence and genotype of high-risk HPV types, with 16 and 18 identified separately.
  • Who it is forWomen as part of cervical screening, at the interval their gynaecologist advises; men where a partner is positive or symptoms suggest it.
  • SampleA swab. Cervical for women, urogenital for men.
  • ReportNegative, or the specific types found, with what follow-up each implies.
Ginefloor

The vaginal flora, in proportion

A healthy vaginal environment is dominated by lactobacilli, which keep it acidic and crowd out everything else. When that dominance falls away, the result is the recurring discomfort many women are treated for repeatedly without anyone establishing what is actually growing. Ginefloor sequences the community and reports the proportions.

It matters beyond comfort: a disturbed flora is associated with a higher chance of infection taking hold, with poorer outcomes in assisted reproduction, and in pregnancy with preterm birth. Knowing the composition means treatment can be aimed rather than guessed.

Favourable
Lactobacillus dominant
Protective bacteria make up the large majority.
Disturbed
Lactobacillus
other organisms
Other species have taken over; treatable once they are named.
  • What it readsThe bacterial and fungal community of the vagina, reported as proportions, including the organisms behind bacterial vaginosis, aerobic vaginitis and candida.
  • Who it is forRecurrent or stubborn symptoms, repeated courses of treatment that do not hold, before an IVF cycle, or in pregnancy where there is concern.
  • SampleA vaginal swab, self-taken or taken by the gynaecologist.
  • ReportThe proportions found, the organisms identified, and whether the profile is favourable.
Urofloor

The same question, for men

The male urogenital tract has its own bacterial community, and it is the part of the picture most often left out. Men carry and pass on organisms without symptoms, which is why a woman can be treated successfully and then be re-infected by an untreated partner. Urofloor reads what is present on the male side.

It is the natural companion to Ginefloor when a couple is dealing with something that keeps coming back, and it is worth doing when a couple is being investigated for fertility, where silent infection and inflammation can matter.

  • What it readsThe bacterial community of the male urogenital tract, including the pathogens most often involved in urethritis and prostatitis.
  • Who it is forMen with recurrent or unexplained urinary or genital symptoms, partners of women with recurring infection, and couples in a fertility work-up.
  • SampleA urogenital swab.
  • ReportThe organisms found and at what level, so treatment can be targeted and both partners treated together.
STD panel

The common sexually transmitted infections, in one test

Most sexually transmitted infections produce no symptoms at all for long stretches, which is exactly why they spread and why some of them are first discovered through their consequences: pelvic inflammation, pain, or difficulty conceiving. A panel tests for the common ones together, from a single swab.

Both partners should be tested and, if anything is found, treated at the same time. Treating one and not the other is the most common reason an infection appears to return.

  • What it readsThe common sexually transmitted pathogens by PCR, including chlamydia, gonorrhoea, trichomonas, mycoplasma and ureaplasma. The exact panel is confirmed by the laboratory.
  • Who it is forAnyone with symptoms or a known exposure, both partners before trying to conceive, and as part of a fertility work-up.
  • SampleA swab, for women and for men.
  • ReportWhich pathogens were detected, so treatment is specific rather than broad-spectrum guesswork.
From blood

What you carry, and what a pregnancy may bring

Three analyses that answer questions before they become problems. One looks at what you and your partner could pass to a child. The other two look at a pregnancy itself, at two complications that are far easier to manage when they are anticipated than when they arrive unannounced. All three are a single blood draw.

CF, cystic fibrosis

Two healthy people, and a one in four chance

Cystic fibrosis is recessive. A carrier has one working copy of the CFTR gene and one faulty one, is completely healthy, and has no way of knowing without a test. Roughly one person in 25 is a carrier. The condition only appears in a child who inherits a faulty copy from both parents, which is why it so often appears in families with no history of it at all.

Neither partner is a carrier
no faulty copy to pass on
The child cannot inherit cystic fibrosis.
One partner is a carrier
50% neither
50% carrier
A child may be a healthy carrier, like the parent, but cannot have the condition.
Both partners are carriers
25%
50% carrier
25%
Each pregnancy carries a one in four chance the child has cystic fibrosis.
Mother, carrier F f Father, carrier F f FF not a carrier 25% Ff healthy carrier 25% Ff healthy carrier 25% ff has cystic fibrosis 25%
F is a working copy of the gene, f a faulty one. Each parent passes on one of their two copies at random, which gives these four equally likely combinations in every pregnancy.

The odds do not carry over

A one in four chance applies independently to every pregnancy. It is not a quota: having one unaffected child does not change the odds for the next, and having one affected child does not mean the next three are safe. That is the part families most often misunderstand, and the part worth sitting down with a geneticist over.

  • Who tests, and whenCouples planning a pregnancy, ideally before conceiving. In practice one partner is usually tested first, most often the woman; the second is tested if the first is a carrier.
  • SampleBlood, from each partner tested.
  • A negative result is reassuring, not absoluteStandard panels detect the great majority of CFTR mutations but not every one, so a small residual risk remains. The report states it rather than implying certainty.
  • If both are carriersA geneticist explains the options, which include testing embryos through IVF (PGT-M) or prenatal diagnosis in a pregnancy.
PE, preeclampsia

A complication worth seeing coming

Preeclampsia is high blood pressure that develops in pregnancy, together with signs that organs are under strain. It is one of the main reasons a baby has to be delivered early. It cannot be predicted from how a woman feels, because by the time it is obvious it is already established, but the risk of developing it can be estimated in the first trimester, and that estimate changes what can be done about it.

Step 1

Screened at 11 to 14 weeks

The assessment is done in the first trimester, while there is still time for prevention to work.

Step 2

Blood, plus two measurements

We measure placental markers in blood. Your doctor contributes blood pressure and a uterine artery ultrasound, and the risk is calculated from all of it together with your history.

Step 3

A risk, not a verdict

The result is a probability. Most women are reassured; a minority are identified as higher risk.

Step 4

Prevention and monitoring

For higher-risk pregnancies, low-dose aspirin started early, together with closer monitoring of blood pressure, substantially reduces the chance of preterm preeclampsia.

Why the timing is the whole point

Prevention works when it starts early in the pregnancy, before the placenta is fully established. Started late, the same treatment does much less. This is why the screen belongs in the first trimester and why a result that arrives in the second is of limited use. If you are planning a pregnancy or have just confirmed one, this is the window.

  • What it readsPlacental proteins in maternal blood, combined with blood pressure, uterine artery Doppler and your medical history in a validated risk algorithm.
  • Who it is forAny pregnant woman in the first trimester; particularly those with a previous preeclampsia, chronic hypertension, kidney or autoimmune disease, diabetes, a multiple pregnancy, or a first pregnancy.
  • SampleBlood. The blood pressure and ultrasound measurements come from your doctor.
  • ReportAn individual risk estimate, with the recommendation that follows from it, to discuss with the doctor managing the pregnancy.
GD, gestational diabetes

Blood sugar that rises because of the pregnancy

In the second half of pregnancy the placenta produces hormones that work against insulin. Most women compensate; some cannot, and their blood sugar rises. It usually causes no symptoms, which is why it is screened for rather than waited for, and it usually resolves after the birth. Left unmanaged it is associated with a larger baby, a harder delivery, and a higher chance of complications for both mother and child.

The good news is how treatable it is. For most women diet, activity and monitoring are enough, and only a minority need medication. The earlier a woman knows she is at risk, the more straightforward that is.

  • What it readsBlood markers of how the body is handling glucose, interpreted together with your history, to estimate the risk of gestational diabetes developing.
  • Who it is forEarly in pregnancy, particularly with a previous gestational diabetes, a raised BMI, a family history of diabetes, polycystic ovary syndrome, or a previous large baby.
  • SampleBlood.
  • ReportA risk assessment that tells you and your doctor how closely to watch, and whether to bring the formal glucose test forward.

This is a risk assessment, not a diagnosis. Gestational diabetes is formally diagnosed with a glucose tolerance test, usually between 24 and 28 weeks. What an early assessment changes is who is watched closely and who is tested sooner.

Questions

Common questions

Answers are general and educational. Panels, turnaround and prices are confirmed by the laboratory.

Do both partners need to be tested?

For an infection or a disturbed flora, yes, if anything is found: treating one partner and not the other is the commonest reason something appears to come back. For cystic fibrosis, one partner is usually tested first and the second only if the first is a carrier, because the condition needs a faulty copy from both.

Does a positive HPV result mean cancer?

No. HPV is very common and most infections clear on their own. Cervical cancer develops only from a high-risk type that persists for years, which is why the test identifies the type and why follow-up is based on which one was found.

If my cystic fibrosis test is negative, is the risk zero?

Very low, but not zero. Standard panels detect the great majority of the mutations in the CFTR gene, not every one of them, so a small residual risk remains. The report states this plainly instead of implying certainty.

When should the preeclampsia screen be done?

In the first trimester, around 11 to 14 weeks. The prevention it leads to works when it starts early in the pregnancy, so a result that arrives later is of much less use.

Is the gestational diabetes test a diagnosis?

No, it is a risk assessment. The diagnosis is made with a glucose tolerance test, usually between 24 and 28 weeks. The value of assessing risk early is knowing who needs closer monitoring and who should be tested sooner.

Can I come without a referral?

Yes, these are patient tests. Call to arrange a time; we will tell you which sample is needed and how to prepare for it. Results are explained by a clinical geneticist.

A swab or a blood draw, and an answer you can act on

Call to arrange a time. We will say which sample is needed, how to prepare, and a geneticist explains the result.

Descriptions are general and educational. Panels, detection limits, turnaround and prices are confirmed by the laboratory and are not published here. Carrier, risk and infection results are interpreted by a clinical geneticist in the context of your history, and do not replace the care of the doctor managing your pregnancy or treatment. Preeclampsia risk assessment combines laboratory markers with blood pressure and ultrasound measurements taken by your doctor; gestational diabetes assessment estimates risk and does not replace the diagnostic glucose tolerance test.