Skip to main content
DNA Labs India

FLNB Gene Atelosteogenesis type 1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

FLNB Gene Atelosteogenesis type 1 NGS Genetic Test

Short Name: FLNB AO1 NGS Test

Also known as: AO1, Atelosteogenesis Type 1, FLNB-related disorder

FLNB Gene Atelosteogenesis type 1 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

To detect mutations in the FLNB gene for definitive diagnosis of Atelosteogenesis Type 1, enabling early management, genetic counseling, and informed family planning.

Test Code
2362
ICD Code
Q77.2
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

Obtain informed consent and clinical history. Ensure genetic counseling session to document family pedigree.

Method: Venipuncture or Dried Blood Spot

Step 2

Laboratory Analysis

Collect blood sample via venipuncture or a drop on FTA card under sterile conditions.

Step 3

Report Delivery

Label sample correctly and transport to lab at ambient temperature. Avoid hemolysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss test implications, family history review, and informed consent.
2
During the Test:Blood draw or sample collection as per instructions. Minimal discomfort.
3
After the Test:Sample processed for NGS analysis. Report delivered after 3-4 weeks with genetic counseling if needed.

About This Test

Who Should Get This Test

To detect mutations in the FLNB gene for definitive diagnosis of Atelosteogenesis Type 1, enabling early management, genetic counseling, and informed family planning.

How to Prepare

  • Fast not required
  • Use EDTA tube for blood
  • FTA card for dried blood spot
  • Store sample at room temperature

Doctor's Notes

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

"Early detection of FLNB mutations is crucial for managing AO1 symptoms, planning multidisciplinary care, and providing genetic counseling to families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL Blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Dried Blood Spot

Sample Stability

Blood in EDTA tube
Dried blood on FTA card
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient volume
  • Unlabeled sample
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the FLNB gene. A positive result confirms diagnosis of Atelosteogenesis Type 1, while a negative result does not fully rule out other genetic causes.
📊

Pathogenic variant detected

Confirms Atelosteogenesis Type 1. Clinical management and genetic counseling are advised.

📊

No pathogenic variant detected

AO1 unlikely due to FLNB mutations. Consider other differential diagnoses or further testing.

📊

Variant of uncertain significance (VUS)

Additional family studies or functional analysis may be needed for classification.

⚠️ When to Consult a Doctor:

If symptoms such as skeletal deformities, respiratory issues, or family history of AO1 are present, consult a geneticist or pediatric specialist for evaluation and test referral.

Limitations

  • ⚠Cannot detect all possible FLNB mutations
  • ⚠Results require clinical correlation
  • ⚠Genetic counseling is recommended for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Potential emotional impact of results
  • ●Risk of uncertain results requiring follow-up

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample storage

Compare With Similar Tests

TestFLNB Gene Atelosteogenesis type 1 NGS Genetic TestSkeletal Dysplasia PanelFLNB Gene SequencingCOL1A1 Gene TestCollagenopathy Panel
ComparisonFLNB Gene Atelosteogenesis type 1 NGS Genetic Test

Frequently Asked Questions

What is Atelosteogenesis Type 1?
Atelosteogenesis Type 1 (AO1) is a rare genetic disorder affecting bone and cartilage development, caused by mutations in the FLNB gene.
What causes AO1?
AO1 is caused by mutations in the FLNB gene, which leads to defective filamin B protein, disrupting bone and cartilage formation.
What are the symptoms of AO1?
Symptoms include short stature, scoliosis, joint dislocations, clubfoot, cleft palate, and respiratory problems, often present at birth.
How is AO1 diagnosed?
Diagnosis involves physical examination, imaging tests like X-rays, and confirmatory genetic testing such as the FLNB NGS test.
What does the FLNB Gene NGS Genetic Test involve?
The test uses Next-Generation Sequencing to detect mutations in the FLNB gene from a blood or DNA sample.
How much does the FLNB Gene AO1 NGS Test cost?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get test results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do after receiving the test results?
Consult a geneticist or healthcare provider for interpretation, management options, and genetic counseling.
Can Atelosteogenesis Type 1 be treated?
While there is no cure, management focuses on symptom relief, orthopedic interventions, respiratory support, and genetic counseling.
Is genetic counseling necessary before testing?
Yes, genetic counseling is recommended to discuss test implications, family history, and support decision-making.
What sample types are accepted for this test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted sample types.
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.

Related Tests

WISP3 Gene Arthropathy, progressive pseudorheumatoid, of childhood NGS Genetic Test

₹20,000

FLNB Gene Atelosteogenesis type 3 NGS Genetic Test

₹20,000

EBP Gene Chondrodysplasia punctata, X-linked dominant NGS Genetic Test

₹20,000

COL11A1 Gene Marshall syndrome NGS Genetic Test

₹20,000

ACTN3 (Sports Gene) Genotyping Test

₹7,000

MYH8 Gene Arthrogryposis, distal, type 7 NGS Genetic Test

₹20,000
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.