NBAS Gene Short stature, optic nerve atrophy, and Pelger-Huet anomaly NGS Genetic Test
Short Name: NBAS Gene NGS Test
Also known as: NBAS Gene Sequencing, Short Stature Optic Atrophy Pelger-Huet Anomaly Panel
NBAS Gene Short stature, optic nerve atrophy, and Pelger-Huet anomaly 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 Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.. 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 primary purpose of this test is to confirm or rule out a genetic cause for clinical features such as short stature, optic nerve atrophy, and Pelger-Huet anomaly. It aids in establishing a precise diagnosis, enabling early intervention, appropriate medical surveillance, and informed reproductive decisions. The test also helps in differentiating NBAS-related disorders from other conditions with overlapping phenotypes.
- Test Code
- 5928
- CPT Code
- 81407
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended prior to testing to discuss the implications and obtain informed consent.
Method: Venipuncture or Finger-prick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple finger-prick is sufficient.
Report Delivery
No specific precautions. The sample will be sent to the laboratory for analysis.
Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to confirm or rule out a genetic cause for clinical features such as short stature, optic nerve atrophy, and Pelger-Huet anomaly. It aids in establishing a precise diagnosis, enabling early intervention, appropriate medical surveillance, and informed reproductive decisions. The test also helps in differentiating NBAS-related disorders from other conditions with overlapping phenotypes.
How to Prepare
- Ensure the patient's identity is verified.
- Use sterile equipment for blood collection.
- For FTA card, apply one drop of blood onto the designated circle and allow to air dry.
- Label the sample with patient's name and unique ID.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for NBAS gene is crucial for early diagnosis and management of associated syndromic features. NGS provides comprehensive analysis of the gene, aiding in precise clinical correlation."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms the diagnosis of NBAS-related disorder. Genetic counseling and family testing recommended.
Likely pathogenic variant detected
Highly suggestive of disease; further evidence may be needed. Clinical correlation advised.
Variant of uncertain significance (VUS)
Cannot be definitively classified; additional testing or family studies may help clarify.
No pathogenic variants detected
Negative result; does not rule out genetic cause. Consider other genetic tests or clinical evaluation.
If you or your child have symptoms such as short stature, optic nerve atrophy, or Pelger-Huet anomaly, or if there is a family history of NBAS-related conditions, consult a clinical geneticist or pediatrician for evaluation and possible genetic testing.
Limitations
- ⚠This test detects variants in the coding regions and splice sites of the NBAS gene; deep intronic or regulatory region variants may not be identified.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variant of uncertain significance (VUS) may be reported; further familial segregation studies may be needed.
- ⚠Negative result does not completely rule out a genetic cause; other genes may be involved.
Risks & Considerations
- ●Minor bruising or bleeding at the blood draw site
- ●Infection (rare)
- ●Psychological impact of genetic results
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of maternal cell contamination in prenatal samples
- ●Recent blood transfusion (may dilute patient's DNA)
Compare With Similar Tests
| Test | NBAS Gene Short stature, optic nerve atrophy, and Pelger-Huet anomaly NGS Genetic Test | Whole Exome Sequencing (WES) | Targeted NBAS Gene Sequencing (Sanger) | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | NBAS Gene Short stature, optic nerve atrophy, and Pelger-Huet anomaly NGS Genetic Test |
Frequently Asked Questions
What is the cost of the NBAS Gene NGS Genetic Test?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
What conditions are associated with NBAS gene mutations?
How is the test performed?
Will I receive genetic counseling?
Can this test be done for children?
What does a negative result mean?
Are there any risks associated with the test?
Is home sample collection available?
How should I prepare for the test?
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.