SHOX Gene Short stature syndrome NGS Genetic Test
Short Name: SHOX NGS Test
Also known as: SHOX Gene Sequencing, Short Stature NGS Panel, SHOX Mutation Analysis
SHOX Gene Short stature syndrome 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 typically delivered within 3 to 4 weeks after the sample reaches the laboratory. You will be notified via SMS/email when the report is ready.. 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 purpose of this NGS genetic test is to identify mutations in the SHOX gene that cause short stature syndrome. It helps confirm a clinical diagnosis, differentiate from other causes of short stature, guide treatment decisions (e.g., growth hormone therapy), and provide information for genetic counseling of the family.
- Test Code
- 5927
- CPT Code
- 81405
- ICD Code
- E34.3
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory. You will be notified via SMS/email when the report is ready.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended to discuss the implications of the test. Please bring any relevant medical records and family history information.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be drawn from a vein in your arm. If using FTA card, a simple fingerstick is performed. The procedure is quick and minimally invasive.
Report Delivery
You may resume normal activities immediately. The sample will be sent to the laboratory for analysis. Results are typically available in 3-4 weeks.
Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory. You will be notified via SMS/email when the report is ready.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify mutations in the SHOX gene that cause short stature syndrome. It helps confirm a clinical diagnosis, differentiate from other causes of short stature, guide treatment decisions (e.g., growth hormone therapy), and provide information for genetic counseling of the family.
How to Prepare
- For blood sample: Use EDTA vacutainer, fill 2-3 ml.
- For FTA card: Apply one drop of blood onto the designated circle.
- Label the sample with patient name, date of birth, and collection date.
- Transport at ambient temperature (15-25°C) to the laboratory.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of SHOX mutations is crucial for appropriate growth hormone therapy and management of associated skeletal abnormalities."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of SHOX-related short stature. Genetic counseling and family screening recommended.
Variant of uncertain significance (VUS)
Insufficient evidence to determine pathogenicity. Additional testing or family segregation analysis may be needed.
No pathogenic variant detected
No SHOX mutation identified. Other genetic or non-genetic causes of short stature should be explored.
If your child has short stature (height below 3rd percentile) or shows signs of disproportionate limb shortening, consult a pediatric endocrinologist or clinical geneticist. Early evaluation can identify underlying causes and guide treatment.
Limitations
- ⚠This test only analyzes the SHOX gene and does not rule out other genetic causes of short stature.
- ⚠Variants in non-coding regulatory regions may not be detected by standard NGS.
- ⚠Large deletions/duplications may require additional MLPA analysis (not included in this 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
- ●Psychological impact of genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Contamination of sample during collection
- ●Insufficient DNA quantity or quality
- ●Presence of maternal cell contamination in prenatal samples
- ●Very rare possibility of mosaicism leading to false negative
Compare With Similar Tests
| Test | SHOX Gene Short stature syndrome NGS Genetic Test | Growth Hormone Stimulation Test | Karyotype for Turner Syndrome | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | SHOX Gene Short stature syndrome NGS Genetic Test |
Frequently Asked Questions
What is the SHOX gene?
What is short stature syndrome?
How is the SHOX gene test performed?
What is the cost of the SHOX gene NGS test at DNA Labs India?
What is the turnaround time for results?
What sample types are accepted?
Is fasting required before the test?
What does the test report include?
Can this test detect all causes of short stature?
Is genetic counseling included?
How can I book this test?
What is the significance of raw data (FASTQ, VCF) files?
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₹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.
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
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