CAH (Congenital Adrenal Hyperplasia CYP21A2) Full Gene Sequence Analysis + MLPA Test: Booking, Price, and Results
About CAH (Congenital Adrenal Hyperplasia CYP21A2) Full Gene Sequence Analysis + MLPA Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | 21-Hydroxylase Gene Full Gene Analysis, CYP21A2 Sequencing with MLPA, CAH Molecular Genetic Test, 21-OHD CAH Genetic Test |
| Sample Type | Peripheral blood (EDTA tube) |
| Fasting Required | No |
| Report Time | 20 days |
| Recommended For | Infants with positive newborn screening, individuals suspected of CAH, family members or partners of CAH patients, and carrier screening |
| Price | Starting at ₹27,600 |
What Is a CAH (Congenital Adrenal Hyperplasia CYP21A2) Full Gene Sequence Analysis + MLPA Test?
The CAH (Congenital Adrenal Hyperplasia CYP21A2) full gene sequence analysis + MLPA test is a specialised molecular genetic test. It analyses the CYP21A2 gene to identify mutations that cause congenital adrenal hyperplasia (CAH), a group of inherited conditions affecting the adrenal glands. Doctors order this test to confirm a diagnosis, identify carriers, or follow up on a positive newborn screening result. A small blood sample collected in an EDTA tube is used for analysis.
What Does a CAH (Congenital Adrenal Hyperplasia CYP21A2) Full Gene Sequence Analysis + MLPA Test Measure?
This test examines the CYP21A2 gene using two complementary techniques that together provide a thorough picture of any genetic changes present.
| Component | What It Does |
|---|---|
| Full Gene Sequencing | Scans the entire CYP21A2 gene to detect common and rare disease-causing mutations, including small changes in the DNA sequence |
| MLPA (Multiplex Ligation-dependent Probe Amplification) | Identifies large deletions and gene conversions in and around the CYP21A2 gene that sequencing alone may miss |
| Gene Dosage Analysis | Counts the number of copies of the CYP21A2 gene and its inactive look-alike (CYP21A1P pseudogene), and detects any hybrid genes formed between them |
Why Is a CAH (Congenital Adrenal Hyperplasia CYP21A2) Full Gene Sequence Analysis + MLPA Test Done?
This test is ordered when there is clinical suspicion of CAH or when a genetic risk needs to be assessed within a family.
Common Symptoms That May Require This Test
Several signs may prompt a doctor to request the CYP21A2 full gene sequence analysis + MLPA test. These include:
- Signs of adrenal insufficiency, where the adrenal glands do not produce enough hormones
- Ambiguous genitalia or differences in sex development in newborns
- Excessive salt loss in urine, along with poor feeding, vomiting, and dehydration in infants
- Early growth spurt in childhood, followed by shorter-than-expected adult height
- Excess body hair (hirsutism) or irregular menstrual cycles in females
- Infertility in adults
- High blood pressure (hypertension) without a clear cause
Conditions This Test Can Help Detect
The CAH molecular genetic test can help identify a range of conditions linked to CYP21A2 mutations:
- 21-Hydroxylase deficiency (21-OHD), the most common cause of CAH, where imbalanced hormone production leads to excess male hormones
- Classic salt-wasting CAH, the most severe form, in which the body cannot regulate sodium levels adequately
- Simple-virilising CAH, a moderately severe form where sodium regulation is intact but hormonal imbalance remains
- Non-classic CAH, a milder form that appears later in life with signs of hormone excess such as acne, early pubic hair development, and menstrual irregularity
- CAH-X syndrome, which affects some individuals with 21-OHD CAH and includes joint hypermobility, chronic joint pain, and heart valve changes
How to Prepare and What to Expect
Preparation for this test is straightforward, but bringing the right information to your appointment is important.
Do You Need to Fast?
No fasting is required before this test. You may eat and drink normally before sample collection.
Practical Tips Before Your Test
The following steps will help ensure a smooth collection and accurate result:
- Bring a detailed clinical history report, including your symptoms, previous test results, and family history, as this is required for the test
- If possible, arrange for at least one parent (ideally both) to provide a blood sample alongside yours, as this helps the laboratory interpret any variants found in the CYP21A2 gene
- Inform the laboratory or doctor if you have previously had a bone marrow transplant, as this can interfere with the test
- Genetic counselling is strongly recommended before and after testing to help you understand what the results mean for you and your family
- Wear a short-sleeved or loose-fitting top to make blood collection easier
Step-by-Step Procedure
- A healthcare professional will verify your identity and ask for informed consent before the procedure begins.
- Your arm is cleaned with an antiseptic, and a small needle is used to draw blood from a vein (venepuncture) into a lavender-top EDTA tube.
- The sample is labelled with your name, date of birth, and the date of collection to ensure accurate tracking.
- The sample is stored at 2°C to 8°C and dispatched to the laboratory promptly.
- In the laboratory, DNA is extracted from the blood sample and prepared for both gene sequencing and MLPA analysis.
- Results are reviewed, classified according to established guidelines, and a detailed report is prepared, typically within 20 days.
Factors That Can Affect Accuracy
Several factors may influence how accurately the test performs:
- Poor quality or degraded DNA in the sample
- Delay in transporting the sample to the laboratory
- A prior bone marrow transplant from a donor, which may introduce donor DNA and distort results
- Complex genetic rearrangements in the CYP21A2 region, which can occasionally be missed even with this two-method approach
- Absence of parental samples, which may make it harder to interpret certain variants
Understanding Your CAH (Congenital Adrenal Hyperplasia CYP21A2) Full Gene Sequence Analysis + MLPA Test Results
This is a qualitative genetic test, meaning results describe the type of genetic finding rather than a numerical value. Results should always be reviewed with a doctor or genetic counsellor who can place them in the context of your symptoms and family history.
| Result Category | Interpretation |
|---|---|
| No pathogenic variant detected | No disease-causing mutation found in the CYP21A2 gene |
| Heterozygous pathogenic variant | Carrier status; one copy of a mutation is present |
| Compound heterozygous or homozygous pathogenic variants | Affected individual; two copies of mutations detected, one from each parent |
| Variant of uncertain significance (VUS) | A genetic change found whose effect on health is not yet established; further evaluation may be needed |
All variants are assessed using American College of Medical Genetics and Genomics (ACMG) recommendations and reported with interpretive comments.
Disclaimer: These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
Results During Special Conditions
A few situations can make result interpretation more complex.
As the CYP21A2 gene closely resembles an inactive copy of itself (the CYP21A1P pseudogene), some complex or large-scale genetic rearrangements may still be missed even with this approach. Results must always be read alongside clinical and biochemical findings.
This testing method cannot always determine whether two identified mutations are on the same chromosome or on opposite chromosomes. Testing blood relatives can help clarify this, which is why parental samples are often requested.
How to Maintain Healthy Levels
This is a genetic test with a fixed result that does not change over time. The following general steps are helpful after receiving your results:
- If identified as a carrier, speak with a genetic counsellor about what this means for family planning
- For individuals confirmed to have CAH, consistent follow-up with an endocrinologist is important for long-term health management
- Attend scheduled medical reviews as advised, since CAH is a lifelong condition that needs ongoing clinical support
Lupin Diagnostics CAH (Congenital Adrenal Hyperplasia CYP21A2) Full Gene Sequence Analysis + MLPA Test Price and Home Collection
The CAH (Congenital Adrenal Hyperplasia CYP21A2) full gene sequence analysis + MLPA test is available at Lupin Diagnostics starting at ₹27,600, with home sample collection available across cities.
| City | Approximate Price (₹) |
|---|---|
| Mumbai | 27600 |
| Pune | 27600 |
| Bangalore | 27600 |
| Chennai | 27600 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Booking the CAH CYP21A2 full gene sequence analysis + MLPA test online is straightforward:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred time slot.
- Opt for home sample collection by a certified phlebotomist, or visit your nearest Lupin Diagnostics centre.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Home Collection
Lupin Diagnostics offers home blood collection for this test across multiple cities. All samples are processed in NABL-accredited laboratories by trained technologists. Your digital report will be shared with you once it is ready.
Frequently Asked Questions
This test identifies mutations in the CYP21A2 gene that cause congenital adrenal hyperplasia. It is used to confirm a diagnosis of 21-hydroxylase deficient CAH, determine carrier status, and support family planning decisions. The CAH molecular genetic test helps doctors understand the specific type and severity of the condition.
Sequencing alone can detect small mutations but may miss large deletions or rearrangements. MLPA is designed specifically to detect these larger changes in the CYP21A2 gene. Using both methods together improves the overall detection rate, as more than 90% of CAH cases involve CYP21A2 mutations.
This test is suitable for individuals who show clinical features of CAH, those with a personal or family history of 21-hydroxylase deficiency, infants with a positive newborn screening result, and partners of known carriers who wish to assess their reproductive risk. Your doctor will advise whether the CYP21A2 full gene sequence analysis + MLPA test is appropriate for you.
The CYP21A2 gene is very similar to a nearby inactive gene, which makes interpretation complex. A sample from one or both parents helps the laboratory determine whether identified variants are inherited on the same chromosome or on opposite chromosomes, which affects the predicted impact on health.
A variant of uncertain significance (VUS) is a genetic change whose link to disease has not yet been confirmed. It is neither classified as disease-causing nor as harmless. Additional family testing or monitoring over time may help reclassify it. A genetic counsellor can guide you through what a VUS finding means in your specific situation.
This test focuses on the CYP21A2 gene, which accounts for the majority of CAH cases. However, some very complex or large-scale rearrangements may occasionally be missed, and a small number of CAH cases may be caused by changes in other genes not covered by this test. Results should always be reviewed alongside clinical and hormonal test findings.
The report for this test is typically delivered within 20 days from the date of sample collection. This timeline reflects the detailed laboratory analysis involved in full gene sequencing and MLPA. Your doctor or genetic counsellor will contact you once the results are available.
CAH (Congenital Adrenal Hyperplasia CYP21A2) Full Gene Sequence Analysis + MLPA Test: Booking, Price, and Results
