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FAM20C Gene Raine syndrome NGS Genetic Test

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FAM20C Gene Raine syndrome NGS Genetic Test

Short Name: FAM20C Gene Test

FAM20C Gene Raine syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation 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

The purpose of this test is to identify mutations in the FAM20C gene associated with Raine Syndrome, enabling accurate diagnosis, carrier testing, and informed clinical management.

Test Code
5130
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 (Next-Generation Sequencing)
Step 1

Sample Collection

Provide detailed clinical history and undergo a genetic counseling session to draw a pedigree chart of affected family members.

Method: Blood collection or DNA extraction

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample or assist with saliva/FTA card collection.

Step 3

Report Delivery

The sample will be processed and analyzed in the laboratory using NGS technology.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are mandatory before sample collection.
2
During the Test:Sample collection is quick and minimally invasive, typically taking a few minutes.
3
After the Test:Results are delivered online within 3 to 4 weeks, followed by counseling if needed.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the FAM20C gene associated with Raine Syndrome, enabling accurate diagnosis, carrier testing, and informed clinical management.

How to Prepare

  • No fasting required
  • Bring valid ID and doctor's prescription
  • Ensure proper labeling of sample

Doctor's Notes

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

"Genetic testing for Raine Syndrome is crucial for early diagnosis and management, especially in families with a history of bone disorders. Consult a geneticist for personalized care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood collection or DNA extraction

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 insufficient sample volume
  • Incorrect labeling or missing documentation
  • Contaminated sample

Understanding Your Results

Results are interpreted based on the presence or absence of pathogenic variants in the FAM20C gene. Genetic counseling is recommended to understand implications.
Positive for pathogenic variant: Indicates Raine Syndrome or carrier status
Negative: No mutations detected; clinical symptoms may have other causes
Variant of uncertain significance: Requires further testing or family studies
⚠️ When to Consult a Doctor:

If symptoms of Raine Syndrome are present, or there is a family history of the condition, consult a geneticist or pediatrician for evaluation and testing.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation
  • ⚠Not suitable for prenatal diagnosis without additional validation

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample degradation
  • ●Contamination
  • ●Technical errors in sequencing

Frequently Asked Questions

What is Raine Syndrome?
Raine Syndrome is a rare genetic disorder characterized by bone development abnormalities, caused by mutations in the FAM20C gene.
What causes Raine Syndrome?
It is caused by mutations in the FAM20C gene, which is involved in bone and teeth mineralization.
What are the common symptoms of Raine Syndrome?
Symptoms include small head size, short stature, malformed bones, widely spaced eyes, and low-set ears.
How is Raine Syndrome diagnosed?
Diagnosis is often confirmed through genetic testing, such as NGS sequencing of the FAM20C gene.
What does the FAM20C Gene NGS Genetic Test involve?
The test uses Next-Generation Sequencing to analyze the FAM20C gene for mutations linked to Raine Syndrome.
How much does the test cost?
The cost is INR 20,000, which includes the test, genetic counseling, and physician consultation.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used.
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, free home sample collection is available for online bookings across India.
What should I do before the test?
Provide clinical history and undergo a genetic counseling session to prepare for the test.
How accurate is the genetic test?
The test is highly accurate for detecting pathogenic variants in the FAM20C gene, but results should be correlated clinically.
What are the treatment options for Raine Syndrome?
Treatment is supportive and may include orthopedic care, physical therapy, and regular monitoring by healthcare professionals.
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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