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CYP27A1 Gene Cerebrotendinous Xanthomatosis NGS Genetic Test

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CYP27A1 Gene Cerebrotendinous Xanthomatosis NGS Genetic Test

Short Name: CYP27A1 CTX NGS

Also known as: CYP27A1 Gene Sequencing, Sterol 27-Hydroxylase Gene Test, CTX Genetic Test, Cerebrotendinous Xanthomatosis NGS Panel

CYP27A1 Gene Cerebrotendinous Xanthomatosis NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing for variant confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are generally issued within 3-4 weeks from the date of sample receipt. In some cases, additional confirmation testing (e.g., Sanger) may extend the turnaround time by a few days.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect pathogenic variants in the CYP27A1 gene, confirming the diagnosis of cerebrotendinous xanthomatosis (CTX) in symptomatic patients and enabling carrier testing, presymptomatic diagnosis, and informed genetic counselling for at-risk families.

Test Code
3949
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally issued within 3-4 weeks from the date of sample receipt. In some cases, additional confirmation testing (e.g., Sanger) may extend the turnaround time by a few days.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Sequencing for variant confirmation
Step 1

Sample Collection

No special preparation or fasting is required. Please inform the lab if the patient has a history of recent blood transfusion, bone marrow transplantation, or haematological malignancy.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample from a vein in your arm using a sterile needle. For FTA card collection, a few drops of blood are placed on the card and allowed to air dry.

Step 3

Report Delivery

Resume normal activities immediately. Press the collection site to prevent bruising. For FTA card, ensure it is labelled and placed in the provided envelope.

Timeline: Reports are generally issued within 3-4 weeks from the date of sample receipt. In some cases, additional confirmation testing (e.g., Sanger) may extend the turnaround time by a few days.

Patient Instructions

1
Before the Test:Discuss the purpose, risks, and benefits with your doctor. Provide a detailed family history, especially any neurological or metabolic disorders. Consider genetic counselling before and after testing.
2
During the Test:The test involves providing a small blood sample or FTA card spot. In a few seconds, the sample is collected and sent to the laboratory.
3
After the Test:You will receive the report via email or on the patient portal within 3-4 weeks. Your doctor will review the report and discuss the results with you, including any need for further investigations or family testing.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants in the CYP27A1 gene, confirming the diagnosis of cerebrotendinous xanthomatosis (CTX) in symptomatic patients and enabling carrier testing, presymptomatic diagnosis, and informed genetic counselling for at-risk families.

How to Prepare

  • Do not transfer the sample to another container without instructions.
  • If using FTA card, let the blood spot dry completely for at least 1 hour before sealing.
  • Label the sample tube/card with patient name, date of birth, and collection date.
  • Maintain sample at room temperature if shipping within 24 hours; otherwise refrigerate.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for CTX is essential for early diagnosis and prenatal counselling. At DNA Labs India, the NGS-based approach ensures comprehensive and reliable results to guide clinical management and reproductive decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or as per sample type
ContainerEDTA tube / FTA card / DNA storage tube
Collection MethodVenipuncture or FTA card spot

Sample Stability

72 hours
7 days
1 year
Several years
Sample Rejection Criteria:
  • Improperly labelled sample
  • Clotted or haemolyzed blood sample
  • Sample leaked during transport
  • FTA card with insufficient blood or contamination
  • Frozen whole blood (causes lysis and DNA degradation)

Understanding Your Results

The report will describe any variants found in the CYP27A1 gene. If a pathogenic or likely pathogenic variant is identified in an affected individual, the diagnosis of cerebrotendinous xanthomatosis is confirmed. For asymptomatic individuals with a family history, a positive result indicates that they may be at risk for developing the disorder and should receive close clinical follow-up.
📊

Negative (no pathogenic variant detected)

CYP27A1-associated CTX is unlikely, but biochemical testing and clinical correlation are still required.

📊

Positive - homozygous or compound heterozygous pathogenic variants

Confirms molecular diagnosis of CTX; autosomal recessive pattern.

📊

Carrier (single pathogenic variant)

Individual is an asymptomatic carrier; at-risk for CTX only if partner carries a variant in the same gene.

📊

Variants of uncertain significance (VUS)

Additional family segregation studies and clinical-biochemical correlation are needed to reclassify the variant.

⚠️ When to Consult a Doctor:

Consult a neurologist or medical geneticist if you or a family member experience unexplained chronic diarrhea, early-onset cataracts, tendon xanthomas, gait ataxia, spasticity, seizures, cognitive decline, or if there is a known family history of cerebrotendinous xanthomatosis.

Limitations

  • ⚠NGS may not reliably detect large structural rearrangements, deep intronic variants, or repeat expansions; additional testing may be required.
  • ⚠Variants of uncertain significance (VUS) may be reported; further family studies and functional analysis are often necessary.
  • ⚠This test does not assess biochemical markers like cholestanol levels; correlation with clinical and biochemical findings is essential.
  • ⚠Rare genetic variants in other genes with overlapping phenotypes may not be covered by this single-gene test.

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood collection site.
  • ●Psychological impact of learning a genetic diagnosis (positive or carrier).
  • ●Possibility of finding variants of uncertain significance.
  • ●Implications for family members that may require further testing.

Interfering Factors

  • ●Maternal cell contamination in prenatal samples
  • ●Unexpected clonal haematopoiesis in blood DNA
  • ●Contamination with foreign DNA during sample handling
  • ●Poor DNA quality due to hemolysis or improper storage
  • ●Recent blood transfusion can dilute patient's own DNA

Compare With Similar Tests

TestCYP27A1 Gene Cerebrotendinous Xanthomatosis NGS Genetic Test
ComparisonCYP27A1 Gene Cerebrotendinous Xanthomatosis NGS Genetic Test

Frequently Asked Questions

What is Cerebrotendinous Xanthomatosis (CTX)?
Cerebrotendinous xanthomatosis (CTX) is a rare inherited metabolic disorder characterized by the accumulation of cholesterol and cholestanol in various tissues, leading to neurological impairment, cataract, tendon xanthomas, and chronic diarrhea. It is caused by mutations in the CYP27A1 gene.
Why is the CYP27A1 gene NGS genetic test done?
This test is performed to identify mutations in the CYP27A1 gene, which confirms or excludes cerebrotendinous xanthomatosis. It is useful in patients with typical symptoms, for carrier testing, and for family member screening.
What is the cost of this test?
The CYP27A1 gene CTX NGS genetic test at DNA Labs India costs INR 20,000. This includes free home sample collection, laboratory analysis, and report interpretation.
What sample is required for this test?
The test can be performed on whole blood (EDTA tube), extracted DNA, or a dried blood spot on FTA card. A small volume of blood is usually sufficient.
Do I need to fast before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before providing the sample.
How long does it take to get the report?
The turnaround time is around 3 to 4 weeks from the date the sample is received in the laboratory. It may vary depending on the need for additional confirmation testing.
What does a positive test result mean?
A positive result, meaning the presence of a pathogenic or likely pathogenic variant in both copies of the CYP27A1 gene, confirms the diagnosis of cerebrotendinous xanthomatosis. It supports the need for early treatment and follow-up.
Can this test be done during pregnancy?
Yes, if the familial mutation is known, prenatal testing can be performed using this NGS test or by Sanger sequencing on a sample obtained through chorionic villus sampling or amniocentesis. This should be done with proper genetic counselling.
Is genetic counselling recommended before the test?
Yes, genetic counselling is strongly recommended before and after the test to understand the purpose, potential findings, and the implications for the individual and their family members.
Does insurance cover the cost of this test?
Coverage depends on your insurance policy. Most Indian insurance plans currently do not cover genetic testing. However, you may check with your provider or our team regarding cashless options or reimbursement.
How accurate is the NGS technology used in this test?
NGS technology is highly accurate for detecting single nucleotide variants, small insertions and deletions in the CYP27A1 gene. Sanger sequencing is used to confirm any clinically significant variants before issuing the final report.
Can this test be used for family screening?
Yes, once a pathogenic mutation is identified in a proband (first affected person in the family), this test can be offered to at-risk relatives to determine their carrier status or confirm the presence of the condition.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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