FGFR1 Gene Osteoglophonic dysplasia NGS Genetic Test
Short Name: FGFR1 NGS
Also known as: Osteoglophonic Dysplasia Genetic Test, FGFR1 Mutation Analysis
FGFR1 Gene Osteoglophonic dysplasia 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 Reports are delivered within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm a clinical diagnosis of Osteoglophonic Dysplasia by identifying disease-causing mutations in the FGFR1 gene. It aids in differentiating this condition from other skeletal dysplasias, provides information for genetic counseling, and helps in assessing recurrence risks for families.
- Test Code
- 5888
- CPT Code
- 81408
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss implications.
Method: Venipuncture or Finger-prick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist. For FTA card, a drop of blood is placed on the card and allowed to dry.
Report Delivery
No restrictions. The sample is transported to the laboratory at ambient temperature.
Timeline: Reports are delivered within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of Osteoglophonic Dysplasia by identifying disease-causing mutations in the FGFR1 gene. It aids in differentiating this condition from other skeletal dysplasias, provides information for genetic counseling, and helps in assessing recurrence risks for families.
How to Prepare
- For blood sample: Use EDTA vacutainer, mix gently to prevent clotting.
- For FTA card: Apply one drop of blood onto the card, air dry for 30 minutes.
- Label the sample with patient's name and date of birth.
- Ship at room temperature in a sealed biohazard bag.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Osteoglophonic dysplasia is a rare FGFR1-related skeletal disorder. Early genetic confirmation is crucial for management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Sample not labeled correctly
- Sample exposed to extreme temperatures
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms diagnosis of Osteoglophonic Dysplasia. Genetic counseling is recommended for family members.
Negative (No pathogenic variant detected)
Does not confirm the diagnosis. Further evaluation may be needed.
Variant of Uncertain Significance (VUS)
A variant was found but its clinical significance is unknown. Additional testing may be required.
If you or your child have symptoms suggestive of Osteoglophonic Dysplasia, or if there is a family history, consult a clinical geneticist or pediatrician for evaluation and testing.
Limitations
- ⚠This test detects mutations in the FGFR1 gene only; other genes may be involved in similar phenotypes.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Test does not assess non-genetic causes of skeletal dysplasia.
Risks & Considerations
- ●Minimal risk of bruising at the blood draw site
- ●Slight discomfort during venipuncture
- ●Psychological impact of genetic results
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Insufficient sample quantity
- ●Presence of maternal cell contamination in prenatal samples
- ●Recent blood transfusion (may dilute DNA)
Compare With Similar Tests
| Test | FGFR1 Gene Osteoglophonic dysplasia NGS Genetic Test | Sanger Sequencing for FGFR1 | Whole Exome Sequencing |
|---|---|---|---|
| Comparison | FGFR1 Gene Osteoglophonic dysplasia NGS Genetic Test | Targeted single-gene test, lower throughput, may miss large deletions. | Analyzes all coding regions, higher cost, longer turnaround, may identify variants in other genes. |
Frequently Asked Questions
What is Osteoglophonic Dysplasia?
How is the FGFR1 gene test performed?
What is the cost of the FGFR1 Osteoglophonic Dysplasia NGS test?
How long does it take to get results?
Is fasting required before the test?
What sample types are accepted?
Can the test be done at home?
What does a positive result mean?
What if the result is negative?
Is genetic counseling included?
Which cities are covered for home sample collection?
Is the test NABL accredited?
Related Tests
KIAA0586 Gene Joubert syndrome type 23 NGS Genetic Test
₹20,000CAT Gene Acatalasemia NGS Genetic Test
₹20,000BLM Gene Bloom syndrome NGS Genetic Test
₹20,000FANCC Gene Fanconi anemia type C NGS Genetic Test
₹20,000TPI1 Gene Triosephosphate isomerase deficiency NGS Genetic Test
₹20,000PTPN23 Gene Ciliogenesis related disorder NGS Genetic Test
₹20,000Reference 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.
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.