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XK Gene McLeod syndrome with or without chronic granulomatous disease NGS Genetic Test

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XK Gene McLeod syndrome with or without chronic granulomatous disease NGS Genetic Test

Short Name: McLeod Syndrome NGS

Also known as: McLeod Neuroacanthocytosis Syndrome Genetic Test, XK Gene Mutation Analysis

XK Gene McLeod syndrome with or without chronic granulomatous disease NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 3, 2026

Overview

The purpose of this NGS genetic test is to identify mutations in the XK gene that cause McLeod syndrome, with or without chronic granulomatous disease. It confirms clinical suspicion, differentiates from other neuroacanthocytosis syndromes, guides medical management, and provides information for genetic counseling of at-risk family members.

Test Code
5834
CPT Code
81408
ICD Code
D57.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. However, a genetic counseling session is recommended before the test to discuss implications and obtain informed consent.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.

Step 3

Report Delivery

No restrictions. You can resume normal activities immediately.

Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:A pre-test genetic counseling session is mandatory to discuss the purpose, risks, benefits, and alternatives of the test. The counselor will draw a pedigree chart to assess inheritance patterns.
2
During the Test:The test involves a simple blood draw or fingerstick. No sedation or special preparation is needed.
3
After the Test:You will receive your report via email and the patient portal. A post-test counseling session is recommended to discuss results and implications.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify mutations in the XK gene that cause McLeod syndrome, with or without chronic granulomatous disease. It confirms clinical suspicion, differentiates from other neuroacanthocytosis syndromes, guides medical management, and provides information for genetic counseling of at-risk family members.

How to Prepare

  • Ensure the patient's identity is verified with a valid ID
  • Use EDTA tube for blood collection; mix gently
  • If using FTA card, apply blood drops to marked circles and air dry
  • Label the sample with patient name, date, and unique ID
  • Transport at ambient temperature; avoid extreme heat or freezing

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"McLeod syndrome is a rare X-linked disorder with hematologic and neurologic manifestations. Early genetic confirmation is crucial for management and family counseling."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 drop on FTA card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Whole blood at room temperature
Extracted DNA at -20°C
FTA card at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling or missing requisition form
  • Sample received after prolonged transit without proper storage

Understanding Your Results

The interpretation of the NGS genetic test results should be performed by a qualified clinical geneticist. Results are reported as positive, negative, or variant of uncertain significance (VUS).
📊

Positive for pathogenic variant in XK gene

Confirms diagnosis of McLeod syndrome. Genetic counseling recommended for family members.

📊

Negative for pathogenic variants

Does not rule out McLeod syndrome; consider other genetic or acquired causes. Clinical correlation advised.

📊

Variant of uncertain significance (VUS)

Insufficient evidence to determine pathogenicity. Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a genetic counselor or neurologist if you have symptoms suggestive of McLeod syndrome, a family history of the condition, or if you are planning a family and are at risk of being a carrier.

Limitations

  • ⚠NGS may not detect large deletions/duplications in all cases; additional MLPA may be required
  • ⚠Variants of uncertain significance may be reported; further functional studies may be needed
  • ⚠This test does not assess non-genetic causes of symptoms
  • ⚠Negative result does not rule out all genetic causes; other genes may be involved

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of genetic results
  • ●Potential for incidental findings

Interfering Factors

  • ●Contamination of sample during collection
  • ●Insufficient DNA quantity or quality
  • ●Presence of maternal cell contamination in prenatal samples
  • ●Recent blood transfusion may affect hematological parameters

Compare With Similar Tests

TestXK Gene McLeod syndrome with or without chronic granulomatous disease NGS Genetic TestSanger SequencingChromosomal Microarray (CMA)Whole Exome Sequencing (WES)
ComparisonXK Gene McLeod syndrome with or without chronic granulomatous disease NGS Genetic Test

Frequently Asked Questions

What is McLeod syndrome?
McLeod syndrome is a rare X-linked genetic disorder caused by mutations in the XK gene. It affects red blood cells (acanthocytosis), the nervous system (chorea, dystonia, cognitive decline), and can cause heart problems and psychiatric symptoms. It may occur with chronic granulomatous disease (CGD) if the deletion includes the CYBB gene.
What is the cost of the XK gene NGS test?
The cost is INR 20,000, which includes the NGS analysis, genetic counseling, and a comprehensive clinical report. We also provide raw data files (FASTQ, VCF) for transparency.
What sample is required for this test?
A blood sample (2-3 ml in an EDTA tube) or a single drop of blood on an FTA card is sufficient. Extracted DNA can also be submitted.
How long does it take to get results?
The turnaround time is 3 to 4 weeks from the date the sample is received at the laboratory.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Can this test detect chronic granulomatous disease (CGD)?
Yes, the NGS panel includes analysis of the CYBB gene, which is commonly deleted along with XK in McLeod syndrome with CGD. However, if CGD is suspected, additional functional testing (e.g., DHR assay) may be recommended.
Who should consider this test?
Individuals with symptoms like unexplained chorea, muscle weakness, elevated CK, acanthocytes on blood smear, or a family history of McLeod syndrome. Also, carriers in families with known XK mutations.
Will I receive raw data files?
Yes, DNA Labs India is the only lab that provides raw data (FASTQ, VCF) along with the clinical report, ensuring transparency and allowing for independent verification.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across major cities in India.
What is the role of genetic counseling?
Genetic counseling is essential before and after the test to explain the implications, inheritance pattern, and to help you make informed decisions about family planning and management.
Are there any risks associated with the test?
The physical risks are minimal (bruising at the blood draw site). However, the results may have psychological and familial implications, which is why counseling is recommended.
How accurate is the NGS test?
NGS is highly accurate for detecting single nucleotide variants and small indels. However, large deletions/duplications may require additional testing like MLPA. Our laboratory follows strict quality controls.
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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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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