OFD1 Gene Oral-facial-digital syndrome type 1 NGS Genetic Test
Short Name: OFD1 Gene NGS Test
Also known as: OFD1 Gene Mutation Test, Oral-Facial-Digital Syndrome Type 1 Genetic Test, OFD1 NGS Sequencing Test
OFD1 Gene Oral-facial-digital syndrome 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 FTA Card samples. Results in Reports are generally available in 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The OFD1 Gene NGS Genetic Test is performed to confirm a clinical diagnosis of Oral-Facial-Digital Syndrome Type 1, to identify carriers in families, and to enable reproductive planning and early intervention for affected individuals.
- Test Code
- 4437
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or FTA Card
- Result Time
- Reports are generally available in 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. Genetic counseling prior to testing is recommended. The patient's clinical information and family history are necessary.
Method: Peripheral blood draw or FTA card spot
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. If providing a FTA card, follow the instructions for a single drop of blood.
Report Delivery
No specific precautions. You may resume normal activities.
Timeline: Reports are generally available in 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The OFD1 Gene NGS Genetic Test is performed to confirm a clinical diagnosis of Oral-Facial-Digital Syndrome Type 1, to identify carriers in families, and to enable reproductive planning and early intervention for affected individuals.
How to Prepare
- No fasting required
- Please carry a valid ID
- Complete the genetic counseling session if opted
- For FTA card, ensure the card is dried and stored properly
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Molecular confirmation is crucial for accurate genetic counseling and management of families affected by OFD1 syndrome."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Improperly labelled samples
- Sample received after prolonged transit
- Contaminated or wet FTA cards
Understanding Your Results
Positive (Pathogenic/Likely pathogenic variant detected)
Confirms the clinical diagnosis of OFD1 syndrome. Enables targeted prenatal testing and carrier testing of family members.
Negative (No pathogenic variant detected)
Does not exclude OFD1 syndrome if clinical suspicion is high; other genetic causes such as ciliopathy panel may be considered.
Variant of Uncertain Significance (VUS)
Further segregation analysis and functional studies may be needed. Genetic counseling is essential.
If you or your child have features suggestive of OFD1 syndrome, or if there is a family history, consult a clinical geneticist for evaluation and testing.
Limitations
- ⚠This NGS test does not detect large deletions/duplications, chromosomal rearrangements, or trinucleotide repeat expansions.
- ⚠All pathogenic and likely pathogenic variants are confirmed by Sanger sequencing.
- ⚠A negative result does not exclude variants in regulatory regions or mosaic mutations.
- ⚠Genetic counseling is strongly recommended to understand the implications of results.
Risks & Considerations
- ●There are no significant risks associated with blood collection.
- ●Slight bruising or discomfort may occur at the puncture site.
Interfering Factors
- ●Poor quality or degraded DNA
- ●Maternal contamination in prenatal samples
- ●Large deletions/duplications not detected by NGS
- ●PCR inhibitors in the sample
Frequently Asked Questions
What is the OFD1 Gene NGS Genetic Test?
What is the cost of the test?
What sample is needed?
Do I need to fast for this test?
How long does it take to get results?
Is home sample collection available?
Who should get this test?
What does a positive result mean?
What does a negative result mean?
Can this test detect all types of OFD1?
Is genetic counseling recommended?
In which cities is this test available?
Related Tests
ACAT1 Gene Methylacetoacetic aciduria NGS Genetic Test
₹20,000SERHL2 Gene Serine hydrolase deficiency, SERHL2 related NGS Genetic Test
₹20,000Comprehensive Ear Nose Throat Panel NGS Genetic Test
₹20,000ATAC Sequencing
₹48,000PTF1A Gene Pancreatic and cerebellar agenesis NGS Genetic Test
₹20,000IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 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.