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FAM111A Gene Gracile bone dysplasia NGS Genetic Test

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FAM111A Gene Gracile bone dysplasia NGS Genetic Test

Short Name: FAM111A Gracile Bone Dysplasia Test

Also known as: FAM111A Gene Sequencing, Gracile Bone Dysplasia Genetic Test

FAM111A Gene Gracile bone dysplasia 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 to 4 weeks. Free home collection in 300+ cities across India.

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 identify mutations in the FAM111A gene for diagnosis of gracile bone dysplasia, aiding in clinical management and genetic counseling.

Test Code
4950
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 Technology
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling session to draw a pedigree chart.

Method: Venipuncture or Saliva Collection

Step 2

Laboratory Analysis

Sample collection via blood draw or saliva, following standard procedures.

Step 3

Report Delivery

Sample is sent to the laboratory for DNA extraction and sequencing.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a geneticist or pediatrician to discuss test necessity and implications.
2
During the Test:Sample collection procedure, typically a blood draw or saliva sample.
3
After the Test:Wait for results and schedule follow-up for interpretation and management planning.

About This Test

Who Should Get This Test

To identify mutations in the FAM111A gene for diagnosis of gracile bone dysplasia, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper sample labeling
  • Follow aseptic techniques
  • Store samples at ambient room temperature

Doctor's Notes

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

"This test is crucial for early diagnosis and management of gracile bone dysplasia, helping guide treatment and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood sample stable for 7 days at room temperature
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Contaminated or degraded sample

Understanding Your Results

Results indicate the presence or absence of mutations in the FAM111A gene, which are associated with gracile bone dysplasia.
Positive result: Pathogenic mutation detected, consistent with gracile bone dysplasia diagnosis.
Negative result: No pathogenic variants detected, but clinical correlation is advised.
Variant of uncertain significance: Further testing or family studies may be recommended.
⚠️ When to Consult a Doctor:

If symptoms such as bone fragility, short stature, or skeletal abnormalities are present, or if there is a family history of gracile bone dysplasia.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Contaminated sample
  • ●Degraded DNA
  • ●Improper sample storage

Frequently Asked Questions

What is gracile bone dysplasia?
Gracile bone dysplasia is a rare genetic disorder characterized by fragile bones, short stature, and skeletal abnormalities due to mutations in the FAM111A gene.
What causes gracile bone dysplasia?
It is caused by mutations in the FAM111A gene, which disrupts normal bone development and growth.
What are the symptoms of gracile bone dysplasia?
Symptoms include short stature, fragile bones prone to fractures, bowed limbs, abnormal bone shapes, small head size, joint contractures, and respiratory difficulties.
How is gracile bone dysplasia diagnosed?
Diagnosis involves physical exams, medical imaging (e.g., X-rays), and genetic testing such as the FAM111A gene NGS test.
What is NGS Genetic Testing?
NGS (Next-Generation Sequencing) is a advanced DNA sequencing technology used to identify genetic mutations rapidly and accurately.
How does the FAM111A gene test work?
The test analyzes the FAM111A gene using NGS to detect mutations associated with gracile bone dysplasia from a blood or saliva sample.
What is the cost of the FAM111A gene test?
The test costs INR 20000 at DNA Labs India, including sample collection, DNA extraction, sequencing, and reporting.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India in numerous cities.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
Results indicate if pathogenic mutations in the FAM111A gene are detected, which can confirm or rule out gracile bone dysplasia.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand results, implications, and management options.
Can this test be used for prenatal diagnosis?
Consult a geneticist or healthcare provider to discuss prenatal testing options based on family history and clinical context.
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

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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.

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