DNA Test for Adrenogenital Syndrome
Adrenogenital Syndrome (AGS), also known as congenital adrenal hyperplasia, is a hereditary genetic disorder characterized by impaired function of the adrenal cortex. It occurs due to insufficient synthesis of the enzyme 21-hydroxylase in the body. This leads to reduced production of glucocorticoids and increased levels of sex hormones — androgens and mineralocorticoids.
This hormonal imbalance disrupts sexual differentiation, often beginning during the prenatal period. In girls, genitalia, internal reproductive tracts, mammary glands, and other secondary sexual characteristics may not develop properly, with development occurring in a typically male pattern.
The condition is inherited in an autosomal recessive manner:
- Both parents have no mutated genes — healthy child;
- One parent carries one mutated gene — healthy child, 25% chance of being a carrier of AGS;
- Both parents carry one mutated gene each — 25% chance of an affected child and 50% chance of being a carrier;
- One parent has two abnormal genes — 100% chance of a healthy child who is a carrier;
- One parent has both abnormal genes, the other has one mutated gene — 50% chance of an affected child and 50% chance of being a carrier;
- Both parents have pairs of abnormal genes — 100% chance of a child with adrenogenital syndrome.
According to statistics, approximately one in every 5,000 to 7,000 newborns is born with AGS.
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+7 (499) 490-28-01Manifestations of Adrenogenital Syndrome Differ by Sex.
Symptoms in Girls
At birth, the following changes may be observed:
- The clitoris is greatly enlarged, sometimes resembling a male penis;
- The labia majora are often fused, resembling a male scrotum;
- The urethra and vagina form a urogenital sinus.
Before puberty:
- Excessive body hair, including in atypical areas;
- Rapid growth with bone deformities;
- Hoarse voice;
- Seizures.
During puberty, girls do not develop breasts or start menstruation. Their bodies take on masculine characteristics. Psychological instability and depression may occur. Menstruation may begin but is irregular. In severe cases of AGS, girls are infertile.
Symptoms in Boys
At birth, boys may not have pronounced symptoms except for an enlarged penis and small testes. However, before puberty, the following may develop:
- Pathologically rapid growth until about age 12, followed by thinness and short stature;
- Premature erections;
- Early growth of body hair;
- Excessive pigmentation of the scrotum;
- Deepening of the voice.
During puberty, boys may experience severe mental disturbances, acne, and impotence.
The studied genes
In the vast majority of cases (over 90%), adrenogenital syndrome (AGS) is associated with mutations in the CYP21 gene. This gene encodes the enzyme 21-hydroxylase, the deficiency of which leads to the development of AGS. Depending on the specific polymorphism in the CYP21 gene, 21-hydroxylase activity is reduced by 60% to 0%. The degree of enzyme activity reduction determines the severity of AGS:
- Salt-wasting form — severe. Characterized by genital abnormalities, cardiovascular disorders, adrenal insufficiency, and infertility.
- Simple virilizing form — moderate. No adrenal insufficiency is observed; minor external genital abnormalities occur, while internal genitalia remain normal.
- Non-classic form — mild. In approximately 25% of cases, it leads to miscarriage.
This test panel includes 9 of the most dangerous and frequently occurring polymorphisms.
First and foremost, couples planning a pregnancy should undergo DNA testing for AGS. This is because pregnancy in women with AGS is often very complicated, with constant risks of miscarriage and fetal demise due to hormonal instability.
People with a family history of adrenogenital syndrome, adrenal cortex disorders, or hormonal imbalances are also advised by doctors to undergo genetic testing.
External factors that may increase the risk of developing AGS include:
- Acute infectious diseases;
- Ionizing radiation;
- Adrenal gland diseases;
- Adrenal gland injuries;
- Severe intoxication.
The combination of hereditary predisposition and external factors accelerates the development of the disorder. The disease may manifest during puberty.
DNA Laboratory licenses and certificates
How to Take a DNA Test for Adrenogenital Syndrome Predisposition
For genetic analysis, samples of buccal epithelium (oral swab) or 5–10 ml of venous blood are used.
Venous Blood
To collect blood, a vacuum tube with a purple cap is required. The tube must contain Ethylenediaminetetraacetic acid (EDTA) of type K1, K2, or K3. The required volume of blood is 2 ml to 6 ml. Using two tubes is acceptable.
The collection should be done with the patient in a seated position. Blood flow must go directly into the tube. After collection, gently shake the tube 5–6 times to mix the blood with the EDTA.
Buccal Epithelium
To provide a buccal swab, you can either visit a sample collection center or perform the collection yourself at home. You will need:
- Cotton swabs — at least 2, preferably 4;
- One clean paper envelope;
- One pair of sterile disposable gloves.
Alternatively, you can order a free sample collection kit from our DNA center by phone — it contains everything you need.
Watch the detailed video instruction: How to Collect a Sample.
How long does it take?
The turnaround time for the analysis is 5 business days from the moment the samples arrive at the laboratory.
The day of sample delivery is not counted, as all samples first go through a registration process before being forwarded to the genetic specialists.
How to Receive the Report
You can receive your DNA test results in any convenient way:
- Electronically via email;
- In person at the biological sample collection point;
- By delivery through Russian Post;
- By courier delivery to your door;
- By phone (if you have a unique order number, and the phone number is authorized to receive verbal results).
The method of result delivery is selected when placing the order for the analysis.
Where to take a DNA test for adrenogenital syndrome
Take a DNA test for adrenogenital syndrome
- You can use the form «Pre-appointment» to schedule an appointment or come to our genetic center at any time convenient for you.
See step-by-step instructions see here. - Do it yourself at home:
- Order by courier our branded kit, specially designed for self-collection of DNA samples.
- Using ordinary cotton swabs (ear swabs) from a pharmacy. Our instructions.
- Order a specialist visit to your home for free.
Why the DNA Center «DTL» is the Best in Moscow
How to pay for a DNA test for adrenogenital syndrome
For your convenience, there are several cash and non-cash payment options for a DNA test:
- In our DNA centers, you can pay in cash or with a bank card.
- Online payment is available on our DNA center website.
- At the offices of Sberbank or any other Bank by receipt (download).
- Through a bank account (for legal entities).
When filling out an application for DNA analysis, you can choose the method of receiving the genetic test results:
- In person at the DNA center.
- To the e-mail specified in the application for analysis.
- By courier service throughout Russia.
- If you have taken a legal DNA test, we can send the forensic genetic report to the address of the court.
- If you need another delivery method, you can specify it in the application.
Each order is assigned a unique individual number. The laboratory guarantees 100% safety and confidentiality of all data received from you.
What should I do if the test is positive?
A positive test result indicates the presence of a pathological gene variant that increases the risk of developing a malignant tumor. This should not be viewed as a sentence. A DNA test is conducted to provide early awareness of potential cancer development.
However, there is a possibility that cancer has already begun to form. In such cases, DNA testing serves as one of the diagnostic tools at the earliest stages of the disease.
If the result is positive, it is important to:
- Consult an oncologist with your DNA test results;
- Undergo additional diagnostic procedures: X-ray imaging, cytological examinations, laparoscopy and thoracoscopy, biopsy of tumor tissue.
These investigations will help the oncologist accurately determine the stage of cancer and whether metastases are present. By combining this information with family history and DNA analysis results, appropriate treatment can be prescribed.
A comprehensive approach is typically used, combining surgery with chemotherapy or radiation therapy. The treatment plan and type of therapy are determined solely by the attending physician.
Reviews of DNA Tests and Laboratories in Moscow
The «DTL» DNA Center conducts DNA testing throughout the entire Russian Federation. The laboratory uses equipment from Applied Biosystems, a global leader in biotechnology. Modern scientific and technological advancements enable us to perform unique DNA tests that are offered by only a few laboratories worldwide. All tests are carried out exclusively by certified specialists, including world-class experts with over 15 years of experience in DNA research.
The «DTL» DNA Center has offices in many cities across Russia, making it possible to submit samples in virtually any city, including smaller towns across the country.
