Medical Genetics

Medical genetics plays a bigger role in healthcare than most people realize, it’s not just about rare diseases but about understanding what’s beneath the surface of many health problems. Biruni Hospital has taken steps to bring this understanding closer to patients by offering diagnostics and counseling. 

Turkey’s genetics landscape adds some urgency, but the focus is on clear practical care that actually helps without unnecessary noise. It’s about making sure the right tests are done the right way, and that people get the information they need to make decisions.

What is medical genetics ?

Medical genetics looks at how genes affect health, it’s about more than rare diseases and includes many conditions shaped by genetic factors. The process combines lab testing, clinical checks and plain communication to find genetic causes behind health problems. 

The goal is clear practical answers to help with diagnosis and treatment. It covers inherited disorders as well as complex diseases influenced by many genes and the environment.

Aspects of medical genetics

• Checking DNA and chromosomes to find mutations or irregularities
• Diagnosing inherited conditions using genetic tests and clinical information
• Giving clear counseling so people understand what genetic results mean
• Doing prenatal screening to spot genetic risks early in pregnancy
• Using genetic information to tailor treatments for individuals
• Studying how genes work together to improve diagnosis and treatment.

What are the main types of medical genetics procedures ?

Medical genetics uses different tests to figure out what’s going on with genes, each test looks at something different from big changes in chromosomes to small shifts in DNA. Knowing these main procedures helps make sense of how doctors find and handle genetic conditions in real life.

Cytogenetic analysis

Cytogenetic analysis looks at chromosomes to find problems that might cause disease or developmental issues; it's a long-established method that focuses on chromosome number, structure and arrangement. Usually, cells come from blood, bone marrow, or amniotic fluid and are grown in the lab. 

The chromosomes are stained to be seen under a microscope. This way, experts can spot missing, extra, or rearranged chromosomes that lead to conditions like Down syndrome or some cancers. It’s used when physical signs or prenatal checks hint at chromosomal issues.

Steps and aspects

• Collect samples from blood, bone marrow, or amniotic fluid
• Grow cells to encourage division
• Stain chromosomes to see them clearly
• Look at chromosomes under a microscope
• Identify deletions, duplications, or rearrangements
• Write detailed reports about the chromosome findings
• Explain results to patients and families through counseling

Molecular genetic testing

Molecular genetic testing examines specific genes or DNA sections to find mutations causing inherited disorders. It focuses on small changes that older methods might miss. DNA is taken from blood, saliva or tissue and analyzed using methods like PCR or sequencing. 

These tests confirm diagnoses, guide treatment and help figure out if family members carry certain mutations.

Steps and aspects

• Get DNA samples from blood, saliva, or tissue
• Extract and purify the DNA
• Pick gene regions to test based on symptoms
• Amplify DNA if needed using PCR
• Sequence DNA to spot mutations
• Check results against known mutation databases
• Interpret the findings in a medical context
• Provide clear reports and counseling

Chromosomal microarray analysis

Chromosomal microarray analysis (CMA) scans the genome for small duplications or deletions that regular chromosome tests miss. CMA uses thousands of probes to find missing or extra DNA bits. It gives a detailed picture used especially when kids have unexplained developmental delays or birth defects. 

CMA doesn’t detect balanced rearrangements but is good at spotting copy number changes linked to many disorders.

Steps and aspects

• Collect DNA from blood or amniotic fluid
• Prepare DNA to attach to microarray chips
• Apply DNA to probes on the chip
• Detect missing or extra DNA segments
• Analyze data with software
• Compare findings to clinical databases
• Report relevant results
• Counsel families about what it means

Prenatal genetic testing

Prenatal genetic testing aims to catch genetic problems early in pregnancy. Non-invasive tests analyze fetal DNA in maternal blood, while invasive ones collect tissue samples for detailed checks.

These tests are offered when risk factors or ultrasound results raise concern. The goal is to help parents make informed choices and prepare for any needed care.

Steps and aspects

• Assess risk from maternal age, family history, and screening
• Offer non-invasive tests like NIPT
• Perform ultrasounds to check fetal development
• Do invasive procedures if indicated
• Analyze fetal DNA or cells for abnormalities
• Interpret results to identify disorders
• Provide counseling about options and risks
• Plan care based on findings

Genetic counseling

Genetic counseling helps people understand what genetics means for their health. Counselors collect family histories, assess risks, explain how inheritance works and interpret test results. Counseling supports decisions about testing, treatment and family planning. 

It also helps people cope with emotions and communicate within families. It connects genetic science with practical care.

Steps and aspects

• Collect personal and family medical histories
• Assess genetic risks from data
• Explain genetic conditions and how they are inherited
• Discuss testing pros and cons
• Interpret test results clearly
• Provide emotional support
• Help make informed health and reproduction choices
• Refer to resources and specialists

What should you do to prepare before a medical genetics procedure ?

Preparation isn’t just routine paperwork or lab work. It’s what sets the direction for everything that comes next. You’re not just handing over a sample, you’re giving context that makes the test worth doing. What you say, how you say it and what you know about your own history all play a role.

1. Review of personal and family medical history

Before anything happens, they need to know what runs in your family and what doesn’t. You’ll go over health issues that have shown up in your relatives, and anything in your own history that might raise questions. It’s not about digging for drama, it’s about giving the team a clear picture so they’re not testing blindly. Sometimes this step is all it takes to narrow things down or even make a decision about the next move.

2. Pre-test genetic counseling

You sit down with someone who knows science and reality. They’ll walk you through what the test can show and what it can’t, and they’ll explain the different ways it could play out good, bad or uncertain. 

This isn’t about pushing you into anything, it’s about making sure you’re not walking in confused or with unrealistic expectations. It’s one of the few moments where clarity actually comes before data.

3. Informed consent

This part is official, but it matters. It’s where you agree to the procedure with a full understanding of what’s being tested, how the results might affect you, and who else might need to know them. It’s not just your signature it’s your call, and you should never feel rushed through it. If there’s something you don’t understand, you’re allowed to ask.

4. Sample collection planning

No two tests need the same thing. Some need blood, some need saliva, some need something more specific, and knowing that early saves you time and stress. 

You might have to fast or stop a medication, and you’ll definitely be told how the sample needs to be handled. This is the point where everything shifts from talking to doing.

What happens after genetic testing ends and the waiting begins ?

Once the sample’s out of your hands and in the lab, the real stretch begins. It’s not about physical recovery anymore, it’s about the mental space you’ll live in while you wait for answers, and the weight of what those answers might mean. 

This part is often overlooked, but it sticks with people more than they expect, especially when the results shift something real in how they see their health, their future or their family.

Short term period right after the procedure

• Physically, you won’t feel much if anything beyond a small prick or pinch, maybe a bruise that fades in a day.
• What hits more is the silence between the sample being taken and the results coming back, especially if the stakes feel high.
• Some people check their phones constantly, others forget about it entirely until the clinic calls.
• In some cases, especially during pregnancy or after a scare, the days feel heavier and every hour stretches longer.
• Clinics might offer a quick follow-up just to keep the line open and make sure you’re not sitting with new questions alone.
• There’s no treatment plan yet, no diagnosis, just a space where things are still unknown, and that space can be hard to sit in.

Long term period after the results are delivered

• When the results come back, you’re not handed a clear map. You’re given a new layer of information and asked to make sense of it.
• If the test confirms something real, it might be a relief, or it might hit harder than you imagined it would.
• Either way, your care team should help shape the next step, whether that’s treatment or lifestyle changes.
• If the results are uncertain, you might end up in a new kind of waiting game. Sometimes it means watching and checking again later.
• Even when the test shows nothing urgent, it can still raise questions that stick, especially if symptoms continue.
• You might need to have hard talks with relatives about what the test means for them too, and those talks don’t always go smoothly.
• In some cases, paperwork becomes part of the process, especially if insurance or long-term planning gets involved.
• Over time, the science changes, and what was unclear might become clear later on. Or something that meant nothing might mean something new.

Wrapping up the journey through medical genetics

Medical genetics isn’t quick or easy. It takes time, focus, and sometimes more questions than answers but that’s how it works. The steps you take before, during, and after testing matter because they set the stage for what comes next. At Biruni Hospital, the goal is to provide clear, reliable genetic insights that help you make informed decisions. Because real answers are the only way forward.