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MPLKIP Gene Trichothiodystrophy, nonphotosensitive type 1 NGS Genetic Test

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MPLKIP Gene Trichothiodystrophy, nonphotosensitive type 1 NGS Genetic Test

Short Name: MPLKIP Gene TTD Test

Also known as: TTD1, Nonphotosensitive Trichothiodystrophy Type 1, MPLKIP-related TTD

MPLKIP Gene Trichothiodystrophy, nonphotosensitive type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Gene Sequencing 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 nonphotosensitive type 1 Trichothiodystrophy by identifying pathogenic mutations in the MPLKIP gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
5155
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
Next-Generation Sequencing (NGS), Gene Sequencing
Step 1

Sample Collection

Provide clinical history of the patient. A genetic counseling session is recommended to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure using venipuncture. For FTA card, a single drop of blood is collected.

Step 3

Report Delivery

Apply pressure to the puncture site. Store samples as per instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are recommended before testing.
2
During the Test:Blood sample collection via venipuncture or FTA card. The test involves NGS sequencing of the MPLKIP gene.
3
After the Test:Results are available in 3-4 weeks. Follow-up with a healthcare provider for interpretation and management.

About This Test

Who Should Get This Test

To diagnose nonphotosensitive type 1 Trichothiodystrophy by identifying pathogenic mutations in the MPLKIP gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Use EDTA blood tube or FTA card
  • Ensure proper labeling
  • Transport at ambient temperature

Doctor's Notes

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

"Genetic testing for Trichothiodystrophy is essential for early diagnosis, family planning, and management of symptoms. Consult a genetic counselor for personalized advice."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood: 7 days at 2-8°C
Extracted DNA: Stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the MPLKIP gene. Positive results confirm nonphotosensitive type 1 TTD, while negative results may require further testing if clinical suspicion remains.
📊

Pathogenic variant detected

Confirms diagnosis of nonphotosensitive type 1 Trichothiodystrophy. Genetic counseling and management recommended.

📊

No pathogenic variant detected

MPLKIP gene mutations not found. Consider other genetic causes or clinical evaluation.

📊

Variant of uncertain significance

Further testing or family studies may be needed. Consult a geneticist.

⚠️ When to Consult a Doctor:

If symptoms of Trichothiodystrophy are present, such as brittle hair, skin issues, or developmental delays, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation
  • ⚠Genetic counseling is advised for interpretation

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare infection risk
  • ●No significant genetic risks from testing

Interfering Factors

  • ●Poor sample quality
  • ●Contaminated DNA
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is the MPLKIP Gene Trichothiodystrophy NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to analyze the MPLKIP gene for mutations causing nonphotosensitive type 1 Trichothiodystrophy.
What is the cost of this test?
The test costs INR 20000 at DNA Labs India, with free home sample collection across India.
What samples are required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
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 in 3 to 4 weeks.
What are the symptoms of nonphotosensitive type 1 TTD?
Symptoms include brittle hair and nails, dry skin, delayed growth, mental retardation, increased infections, and eye problems.
Who should consider this test?
Individuals with symptoms of TTD or a family history of the disorder should consider testing.
Is genetic counseling recommended?
Yes, genetic counseling is advised before and after testing to understand results and implications.
What does a positive result mean?
A positive result confirms mutations in the MPLKIP gene, indicating nonphotosensitive type 1 TTD.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings.
Is the test covered by insurance?
Coverage depends on your insurance policy; check with your provider.
What files are provided with the report?
DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical test 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

Your Data Privacy

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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