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DNA Labs India

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

DNA Labs India | ISO 9001:2015 Certified

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

Short Name: XK Gene NGS

Also known as: McLeod syndrome NGS test, XK gene sequencing

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 delivered 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 SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect pathogenic variants in the XK gene in individuals with clinical features of McLeod syndrome with or without chronic granulomatous disease, and to provide molecular confirmation for early diagnosis and reproductive counselling.

Test Code
4217
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. The patient should carry complete clinical history, any previous laboratory reports, imaging findings and a referral or prescription from the treating doctor. Genetic counselling is recommended before the test.

Method: Peripheral blood collection / FTA card blood spot

Step 2

Laboratory Analysis

A small volume of blood is collected in an EDTA tube. If using an FTA card, a single drop of blood is placed on the card and allowed to air dry.

Step 3

Report Delivery

There are no post-test restrictions. The patient may resume routine activities immediately after sample collection.

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

Patient Instructions

1
Before the Test:No special preparation such as fasting is needed. The patient should discuss the clinical indication and family history with the referring physician or genetic counsellor before testing.
2
During the Test:Blood collection is quick and minimally invasive. The sample is sent to the molecular genetics laboratory for DNA extraction and NGS sequencing.
3
After the Test:Once the report is available, it should be reviewed by the referring doctor and a clinical geneticist. Genetic counselling is recommended to understand the result, inheritance pattern and implications for family members.

About This Test

Who Should Get This Test

To detect pathogenic variants in the XK gene in individuals with clinical features of McLeod syndrome with or without chronic granulomatous disease, and to provide molecular confirmation for early diagnosis and reproductive counselling.

How to Prepare

  • Use EDTA tube for whole blood collection
  • FTA card blood spot should be air-dried before packing
  • Label the sample with patient name and unique identifier
  • Store whole blood at 2-8°C if transport is delayed

Doctor's Notes

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

"This targeted NGS test is valuable when clinical presentation suggests an X-linked condition involving neurological, haematological and immune features. The result must be interpreted in the context of family history, physical examination, blood smear findings and immune function tests. Genetic counselling before and after testing is strongly recommended."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
Sample VolumeOne drop on FTA card or as per collection protocol
ContainerEDTA vacutainer for whole blood; FTA card for dried blood spot
Collection MethodPeripheral blood collection / FTA card blood spot

Sample Stability

Whole blood in EDTA: 72 hours at 2-8°C
FTA card blood spot: stable at room temperature for several days
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Haemolysed, clotted or visibly degraded blood sample
  • Insufficient sample quantity
  • Unlabelled or mislabelled sample
  • Sample transported at incorrect temperature

Understanding Your Results

This is a targeted genetic test. The clinical report will state whether a pathogenic or likely pathogenic variant was identified, and whether it is consistent with McLeod syndrome with or without chronic granulomatous disease.
📊

Pathogenic variant detected

The result is consistent with McLeod syndrome and can provide a molecular diagnosis.

📊

Likely pathogenic variant detected

The variant is very likely disease-causing; further family studies may strengthen the interpretation.

📊

Variant of uncertain significance detected

The clinical significance is unclear. Additional segregation or functional studies may be recommended.

📊

No pathogenic variant detected

This does not exclude a clinical diagnosis; clinical and biochemical findings should be re-evaluated.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist, neurologist, haematologist or immunologist if you have unexplained chorea, muscle weakness, areflexia, acanthocytosis, elevated creatine kinase, psychiatric features, or recurrent infections, especially with a family history of McLeod syndrome or chronic granulomatous disease.

Limitations

  • ⚠Targeted NGS may not detect large structural rearrangements or trinucleotide repeat expansions unless specifically analysed
  • ⚠Variants in non-coding regulatory regions may be missed
  • ⚠A variant of uncertain significance may require additional family studies
  • ⚠The test is not a whole genome or whole exome analysis
  • ⚠Results must be interpreted by a clinical geneticist in the context of the patient's full clinical picture

Risks & Considerations

  • ●Minimal pain or bruising at the blood collection site
  • ●Rare risk of local infection or bleeding
  • ●No direct medical risks from the genetic test itself

Interfering Factors

  • ●Low or degraded DNA quality
  • ●Sample degradation due to transport delay or excess heat
  • ●Maternal cell contamination in certain sample types
  • ●Low sequencing coverage in difficult genomic regions
  • ●Presence of homologous genes or pseudogenes affecting alignment

Frequently Asked Questions

What is the cost of the XK gene McLeod syndrome with or without CGD NGS genetic test?
The XK Gene McLeod syndrome with or without chronic granulomatous disease NGS genetic test costs INR 20000 at DNA Labs India. Free home sample collection is available for online bookings across select cities.
What is McLeod syndrome?
McLeod syndrome is a rare X-linked genetic disorder caused by variants in the XK gene. It characteristically affects the nervous system and blood cells, with features such as acanthocytes, muscle weakness, chorea, psychiatric symptoms and raised creatine kinase.
How is McLeod syndrome inherited?
It follows an X-linked recessive pattern. The gene is located on the X chromosome, so males with a pathogenic variant are typically affected, while females are usually carriers. Female carriers may rarely show features depending on X-inactivation.
What are the symptoms of XK gene McLeod syndrome with or without chronic granulomatous disease?
Symptoms vary and may include muscle weakness, impaired coordination, involuntary movements, depression, anxiety, anaemia, haemolysis and immune system dysfunction in cases associated with chronic granulomatous disease.
What sample is required for this test?
A blood sample in an EDTA tube, extracted DNA, or one drop of blood on an FTA card is accepted for the test.
Do I need to be fasting before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
How long do reports take?
Reports are available within 3 to 4 weeks after the sample reaches the laboratory.
Will I receive raw data files with my report?
Yes, DNA Labs India provides raw data files, FASTQ and VCF files along with the conclusive clinical report for transparency.
Can female family members take this test?
Yes, female relatives can be tested to determine carrier status for the X-linked XK variant. Carrier testing should be accompanied by genetic counselling.
What is NGS technology?
Next Generation Sequencing (NGS) is a high-throughput DNA sequencing method that reads multiple genes simultaneously, offering high accuracy for detecting genetic variants.
What conditions can be assessed with this test?
The test assesses pathogenic variants in the XK gene associated with McLeod syndrome with or without chronic granulomatous disease. It is not a whole gene panel for all neurological or immune disorders.
Who should order this test?
A neurologist, clinical geneticist, haematologist or immunologist may order it after evaluating clinical signs, family history and preliminary investigations. It should be done after genetic counselling.
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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