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PYCR1 Gene Cutis laxa type 3B, autosomal recessive NGS Genetic Test

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PYCR1 Gene Cutis laxa type 3B, autosomal recessive NGS Genetic Test

Short Name: PYCR1 Gene Cutis Laxa Type 3B Test

Also known as: Cutis Laxa Type 3B, Autosomal Recessive Cutis Laxa, PYCR1-related Cutis Laxa

PYCR1 Gene Cutis laxa type 3B, autosomal recessive 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 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 detect mutations in the PYCR1 gene to confirm a diagnosis of Cutis Laxa Type 3B, autosomal recessive, aiding in clinical management and genetic counseling.

Test Code
4884
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)
Step 1

Sample Collection

Genetic counseling session recommended. Provide clinical history and family pedigree.

Method: Venipuncture or Blood Drop

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or blood drop on FTA card.

Step 3

Report Delivery

Sample sent to lab for analysis. Reports available in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and pedigree analysis recommended.
2
During the Test:Sample collection as per instructions.
3
After the Test:Wait for report and follow up with doctor.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the PYCR1 gene to confirm a diagnosis of Cutis Laxa Type 3B, autosomal recessive, aiding in clinical management and genetic counseling.

How to Prepare

  • Bring identification and prescription
  • Inform about any medications or health conditions
  • Follow sample handling instructions provided

Doctor's Notes

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

"This genetic test is essential for families with a history of cutis laxa to understand inheritance patterns and plan for future pregnancies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable for 48 hours at room temperature
FTA cards stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the PYCR1 gene. Positive results confirm diagnosis, while negative results may require further testing.
Pathogenic variant detected: Diagnosis confirmed, genetic counseling advised
Variant of uncertain significance: Further testing or family studies recommended
No variant detected: Condition unlikely, but clinical correlation and alternative diagnoses considered
⚠️ When to Consult a Doctor:

Consult a geneticist or dermatologist if symptoms are present or for family planning advice.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires interpretation by a geneticist
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Possible bruising at puncture site

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type

Frequently Asked Questions

What is PYCR1 Gene Cutis Laxa Type 3B?
It is a rare genetic disorder affecting skin and connective tissues, caused by mutations in the PYCR1 gene and inherited in an autosomal recessive manner.
What are the symptoms of this disorder?
Symptoms include loose, sagging skin, delayed development, intellectual disability, joint problems, muscle weakness, and respiratory issues.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the PYCR1 gene from a blood or DNA sample.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Reports are typically available in 3 to 4 weeks.
Is the test covered by insurance?
No, this test is not typically covered by insurance, so patients should be prepared to pay out of pocket.
What does a positive result mean?
A positive result confirms the presence of mutations in the PYCR1 gene, indicating a diagnosis of Cutis Laxa Type 3B.
What if the result is negative?
A negative result suggests no pathogenic variants were detected, but clinical correlation and further testing may be needed.
Can this test be done for prenatal diagnosis?
Prenatal testing may be possible through genetic counseling, but consult a healthcare provider for specific options.
What is the inheritance pattern?
It is autosomal recessive, meaning both parents must carry the mutated gene for a child to be affected.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting mutations, but results should be interpreted by a qualified geneticist.
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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