BHLHA9 Gene Syndactyly, mesoaxial synostotic, with phalangeal reduction NGS Genetic Test
Short Name: BHLHA9 Syndactyly NGS
Also known as: BHLHA9-related syndactyly, Mesoaxial synostotic syndactyly with phalangeal reduction
BHLHA9 Gene Syndactyly, mesoaxial synostotic, with phalangeal reduction 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 from the date of 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 NGS genetic test is to detect mutations in the BHLHA9 gene that cause syndactyly, mesoaxial synostotic, with phalangeal reduction. It aids in confirming a clinical diagnosis, identifying carriers, and providing information for genetic counseling and family planning. The test is also useful for prenatal diagnosis in at-risk pregnancies.
- Test Code
- 5949
- CPT Code
- 81408
- ICD Code
- Q70.9
- 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 from the date of sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended to discuss the purpose, benefits, and limitations of the test. Please provide a detailed clinical history and family pedigree.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick blood spot is applied. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. You can resume normal activities immediately. The sample will be transported to the laboratory for analysis.
Timeline: Reports are delivered within 3 to 4 weeks from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect mutations in the BHLHA9 gene that cause syndactyly, mesoaxial synostotic, with phalangeal reduction. It aids in confirming a clinical diagnosis, identifying carriers, and providing information for genetic counseling and family planning. The test is also useful for prenatal diagnosis in at-risk pregnancies.
How to Prepare
- Ensure the patient's identity is verified with a valid ID.
- For blood sample, use EDTA tube and mix gently.
- For FTA card, apply blood drops to the designated circles and air dry.
- Label the sample with patient's name, date, and unique ID.
- Transport samples at ambient temperature to the lab within 24 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for BHLHA9 gene mutations is crucial for accurate diagnosis and family counseling. Early detection helps in planning surgical interventions and management of associated limb anomalies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling or missing requisition form
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms the diagnosis of BHLHA9 gene syndactyly. Genetic counseling is recommended for the family.
Likely pathogenic variant detected
Highly suggestive of the condition; further family studies may be needed.
Variant of uncertain significance (VUS)
Cannot be definitively classified; additional testing of family members may help clarify.
No pathogenic variant detected
No mutation found in the BHLHA9 gene; other genetic or environmental causes should be considered.
Consult a geneticist or pediatrician if you or your child have symptoms of syndactyly, such as fused fingers or toes, reduced phalanges, or abnormal digit positioning. Also, if there is a family history of this condition, genetic counseling is advised.
Limitations
- ⚠This test detects mutations only in the BHLHA9 gene; other genetic causes of syndactyly are not evaluated.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠NGS may not detect large deletions/duplications or deep intronic variants.
- ⚠Test results should be interpreted in the context of clinical findings and family history.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Fainting or dizziness during blood collection (rare)
- ●Psychological impact of genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Incomplete clinical information
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare polymorphisms that may complicate interpretation
Compare With Similar Tests
| Test | BHLHA9 Gene Syndactyly, mesoaxial synostotic, with phalangeal reduction NGS Genetic Test | Chromosomal Microarray (CMA) | Sanger Sequencing | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | BHLHA9 Gene Syndactyly, mesoaxial synostotic, with phalangeal reduction NGS Genetic Test | CMA detects copy number variations across the genome, but does not identify single-gene mutations like BHLHA9. NGS is more targeted for specific gene disorders. | Sanger sequencing is used for known familial mutations, but NGS is more efficient for comprehensive gene analysis and can detect novel variants. | WES covers all coding regions and may identify mutations in other genes, but is more expensive and time-consuming. Targeted NGS for BHLHA9 is cost-effective for this specific condition. |
Frequently Asked Questions
What is BHLHA9 gene syndactyly?
How is BHLHA9 gene syndactyly diagnosed?
What is the cost of the BHLHA9 NGS genetic test?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
Can this test be done on children?
What does a positive result mean?
What if no mutation is found?
Is genetic counseling included?
Is home sample collection available?
Is this test covered by insurance?
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₹20,000Reference Laboratory Services
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