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SNRPE Gene Hypotrichosis type 11 NGS Genetic Test

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SNRPE Gene Hypotrichosis type 11 NGS Genetic Test

Short Name: SNRPE Hypotrichosis Type 11 Test

Also known as: Hypotrichosis Type 11, SNRPE-related hypotrichosis, Genetic hair loss disorder

SNRPE Gene Hypotrichosis type 11 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

The purpose of this test is to diagnose SNRPE Gene Hypotrichosis Type 11 by detecting mutations in the SNRPE gene through NGS technology, enabling accurate confirmation, genetic counseling, and management of the condition.

Test Code
4979
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 special preparation is required. Provide clinical history and undergo genetic counseling to draw a pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample via venipuncture or use an FTA card for one drop of blood.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Store the sample as per instructions for stability.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss family history and implications of testing.
2
During the Test:Sample collection and processing using NGS technology in a certified laboratory.
3
After the Test:Report generation, delivery, and follow-up genetic counseling session.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose SNRPE Gene Hypotrichosis Type 11 by detecting mutations in the SNRPE gene through NGS technology, enabling accurate confirmation, genetic counseling, and management of the condition.

How to Prepare

  • Ensure patient identification is accurate
  • Use sterile equipment for blood collection
  • Label the sample correctly with patient details
  • Transport the sample to the lab within the specified stability period

Doctor's Notes

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

"This test is essential for confirming diagnosis of SNRPE Gene Hypotrichosis Type 11, guiding genetic counseling, and assessing risks for future generations."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect labeling or missing patient information

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the SNRPE gene, which are associated with Hypotrichosis Type 11.
📊

No pathogenic variants detected

Negative for SNRPE gene mutations; clinical correlation may be needed.

📊

Pathogenic variant detected

Positive for SNRPE gene mutation; confirms diagnosis of Hypotrichosis Type 11.

📊

Variant of uncertain significance

Further testing or family studies recommended for clarification.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms persist, for genetic counseling, or to discuss test results and management options.

Limitations

  • ⚠May not detect all possible mutations in the SNRPE gene
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results are specific to Hypotrichosis Type 11 and may not apply to other hair disorders

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results on individuals and families

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Improper sample collection or storage
  • ●Recent blood transfusion affecting DNA integrity

Compare With Similar Tests

TestSNRPE Gene Hypotrichosis type 11 NGS Genetic TestOther Hypotrichosis Gene PanelWhole Exome SequencingSNRPE Sanger SequencingHair Shaft Analysis
ComparisonSNRPE Gene Hypotrichosis type 11 NGS Genetic Test

Frequently Asked Questions

What is SNRPE Gene Hypotrichosis Type 11?
It is a rare genetic disorder caused by mutations in the SNRPE gene, leading to sparse hair growth and other symptoms like brittle hair and thickened nails.
How is the test performed?
The test uses next-generation sequencing (NGS) to analyze the SNRPE gene from a blood or DNA sample.
What is the cost of the test?
The cost is INR 20000, which includes home sample collection and report delivery.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across India for this test.
What are the symptoms of this condition?
Symptoms include sparse hair growth on the scalp, eyebrows, and eyelashes, brittle hair, thickened nails, excessive sweating, and abnormal teeth development.
Who should consider this test?
Individuals with symptoms of hypotrichosis, a family history of the disorder, or those seeking genetic counseling.
What does a positive result mean?
A positive result confirms the presence of SNRPE gene mutations, diagnosing Hypotrichosis Type 11 and guiding management.
Is genetic counseling included?
Yes, a genetic counseling session is recommended and can be arranged to discuss results and family risks.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted sample types.
Are raw data files provided?
Yes, DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical report for transparency.
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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For Hospitals & Clinics

Reference Laboratory Services

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.

LIMS Integration

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Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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