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MBTPS2 Gene Keratosis follicularis spinulosa declavans, X-linked NGS Genetic Test

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MBTPS2 Gene Keratosis follicularis spinulosa declavans, X-linked NGS Genetic Test

Short Name: MBTPS2 Gene KFSD X-linked NGS Test

Also known as: KFSD, X-linked keratosis follicularis spinulosa declavans

MBTPS2 Gene Keratosis follicularis spinulosa declavans, X-linked NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. 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 diagnose Keratosis follicularis spinulosa declavans by identifying mutations in the MBTPS2 gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
5041
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No specific preparation required. Ensure proper identification and consent.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store sample as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling recommended to understand test implications and family history.
2
During the Test:Sample collection procedure as per standard protocols.
3
After the Test:Results reviewed by geneticist; follow-up counseling provided.

About This Test

Who Should Get This Test

To diagnose Keratosis follicularis spinulosa declavans by identifying mutations in the MBTPS2 gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Use sterile equipment for blood collection
  • Label sample correctly with patient details
  • Transport sample at ambient room temperature
  • Avoid hemolysis during collection

Doctor's Notes

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

"This NGS test is essential for confirming KFSD diagnosis, especially in families with X-linked inheritance patterns, enabling targeted genetic counseling and management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or identification

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the MBTPS2 gene. Positive results confirm KFSD diagnosis, while negative results may require further clinical evaluation.
Positive: Pathogenic variant detected – confirms diagnosis of KFSD
Negative: No pathogenic variant detected – does not rule out other causes
Variant of uncertain significance (VUS) – requires additional testing and counseling
⚠️ When to Consult a Doctor:

Consult a doctor or genetic counselor if symptoms persist, worsen, or if there is a family history of genetic disorders.

Limitations

  • ⚠May not detect all possible mutations in the MBTPS2 gene
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising or discomfort at blood draw site
  • ●Rare risk of infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Hemolyzed blood sample
  • ●Improper sample storage or handling

Compare With Similar Tests

TestMBTPS2 Gene Keratosis follicularis spinulosa declavans, X-linked NGS Genetic TestSkin BiopsySanger Sequencing
ComparisonMBTPS2 Gene Keratosis follicularis spinulosa declavans, X-linked NGS Genetic Test

Frequently Asked Questions

What is the MBTPS2 Gene KFSD NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to identify mutations in the MBTPS2 gene, which causes Keratosis follicularis spinulosa declavans, a rare X-linked skin disorder.
How is the test performed?
A blood sample or extracted DNA is analyzed using NGS technology to sequence the MBTPS2 gene and detect any pathogenic variants.
What is the cost of the test in India?
The cost is INR 20,000, which includes sample collection, analysis, and report generation.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Who should take this test?
Individuals with symptoms of KFSD, such as small raised bumps on the skin, or those with a family history of X-linked skin disorders.
What are the symptoms of KFSD?
Symptoms include small raised bumps on the skin, redness, itching, discomfort, scaling, and flaking, often appearing in early childhood.
How is KFSD inherited?
KFSD is inherited in an X-linked pattern, meaning it is caused by mutations on the X chromosome and primarily affects males.
Can females be affected by KFSD?
Yes, females can be affected, but their symptoms are usually less severe due to having two X chromosomes.
What is the accuracy of the NGS test?
NGS technology provides high accuracy for detecting mutations in the MBTPS2 gene, but results should be interpreted in clinical context.
Are there any risks associated with the test?
Risks are minimal, including minor bruising from blood draw and potential psychological impact of genetic results.
How can I interpret the test results?
Results should be reviewed with a genetic counselor or healthcare provider. Positive results confirm KFSD, while negative results may require further evaluation.
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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