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PYCR1 Gene Cutis laxa type 2B, autosomal recessive NGS Genetic Test

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PYCR1 Gene Cutis laxa type 2B, autosomal recessive NGS Genetic Test

Short Name: Cutis Laxa Type 2B NGS Test

Also known as: Autosomal Recessive Cutis Laxa Type 2B, PYCR1-related Cutis Laxa

PYCR1 Gene Cutis laxa type 2B, autosomal recessive 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 3-4 Weeks. 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 7, 2026

Overview

To diagnose Cutis Laxa Type 2B caused by mutations in the PYCR1 gene, enabling accurate identification, genetic counseling, and informed clinical management.

Test Code
4880
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide detailed clinical history of the patient and attend a genetic counseling session to draw a pedigree chart of family members affected with Cutis Laxa Type 2B.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood collection procedure via venipuncture or use of FTA card for one drop of blood.

Step 3

Report Delivery

Sample is processed for DNA extraction and analyzed using NGS technology.

Timeline: 3-4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling to assess family history and symptoms.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Sample analysis using NGS technology; results delivered in 3-4 weeks.

About This Test

Who Should Get This Test

To diagnose Cutis Laxa Type 2B caused by mutations in the PYCR1 gene, enabling accurate identification, genetic counseling, and informed clinical management.

How to Prepare

  • Provide complete clinical history
  • Attend genetic counseling session
  • Ensure sample is collected properly

Doctor's Notes

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

"This test is crucial for early diagnosis and management of Cutis Laxa Type 2B, helping families understand genetic risks and plan appropriate care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or contaminated sample
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PYCR1 gene associated with Cutis Laxa Type 2B.
📊

Positive

Pathogenic variant detected in PYCR1 gene, confirming diagnosis of Cutis Laxa Type 2B.

📊

Negative

No pathogenic variants detected; clinical correlation recommended.

📊

Variant of Uncertain Significance

Genetic variant found but significance unclear; further testing may be needed.

⚠️ When to Consult a Doctor:

If symptoms such as loose skin, joint hypermobility, developmental delays, or other signs of Cutis Laxa Type 2B are present, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare risk of infection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Frequently Asked Questions

What is Cutis Laxa Type 2B?
Cutis Laxa Type 2B is a rare autosomal recessive genetic disorder caused by mutations in the PYCR1 gene, leading to loose, sagging skin and other connective tissue issues.
What are the symptoms of Cutis Laxa Type 2B?
Symptoms include loose skin, joint hypermobility, developmental delay, intellectual disability, seizures, respiratory problems, and cardiovascular abnormalities.
How is Cutis Laxa Type 2B diagnosed?
Diagnosis involves clinical examination, genetic testing (like NGS), and imaging studies to identify mutations in the PYCR1 gene.
What is the cost of the PYCR1 Gene NGS Genetic Test in India?
The cost at DNA Labs India is INR 20,000, which includes genetic counseling, sample collection, and analysis.
What sample is 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 delivered in 3-4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What does a positive result mean?
A positive result indicates the presence of a pathogenic variant in the PYCR1 gene, confirming Cutis Laxa Type 2B.
Can this test be used for prenatal diagnosis?
Consult a genetic counselor; prenatal testing may be possible but requires specific protocols.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw; genetic counseling is provided to discuss implications.
How can I prepare for the test?
Provide clinical history, attend genetic counseling, and ensure proper sample collection as instructed.
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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