CHD7 Gene Kallmann syndrome type 5 NGS Genetic Test
Short Name: CHD7 NGS Test
Also known as: CHD7 Gene Test, Kallmann Syndrome Type 5 Genetic Test, CHD7 Mutation Analysis
CHD7 Gene Kallmann syndrome type 5 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 3 to 4 weeks from 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 Kallmann Syndrome Type 5 by detecting pathogenic mutations in the CHD7 gene. It also helps in carrier detection, genetic counseling, and family planning decisions.
- Test Code
- 5808
- CPT Code
- 81407
- ICD Code
- E23.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- 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 understand the implications.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No restrictions. You can resume normal activities immediately.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of Kallmann Syndrome Type 5 by detecting pathogenic mutations in the CHD7 gene. It also helps in carrier detection, genetic counseling, and family planning decisions.
How to Prepare
- For blood sample: Use EDTA tube, mix gently.
- For FTA card: Apply one drop of blood on the designated circle, air dry for 30 minutes.
- Label the sample with patient ID and date.
- Transport at ambient temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Kallmann syndrome type 5 is a rare genetic condition that requires precise molecular diagnosis. NGS-based testing of the CHD7 gene is essential for confirming the clinical suspicion and guiding reproductive and therapeutic decisions."
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 without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Kallmann Syndrome Type 5. Genetic counseling recommended for family members.
Likely pathogenic variant detected
Highly suggestive of disease; further functional studies may be needed.
Variant of uncertain significance (VUS)
Cannot be definitively classified; additional testing of family members may help.
No pathogenic variant detected
No mutation found in CHD7 gene; consider testing other genes associated with Kallmann syndrome.
If you or your child experience delayed puberty, absent sense of smell, or infertility, consult a clinical geneticist or endocrinologist for evaluation and genetic testing.
Limitations
- ⚠This test detects mutations only in the CHD7 gene; other genes causing Kallmann syndrome are not covered.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be needed.
- ⚠Test does not assess functional impact of variants.
Risks & Considerations
- ●Minimal risk of bruising at blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Recent blood transfusion (within 2 weeks)
- ●Bone marrow transplantation
- ●Presence of maternal cell contamination in prenatal samples
Compare With Similar Tests
| Test | CHD7 Gene Kallmann syndrome type 5 NGS Genetic Test | Kallmann Syndrome Panel (Multiple Genes) | Whole Exome Sequencing |
|---|---|---|---|
| Comparison | CHD7 Gene Kallmann syndrome type 5 NGS Genetic Test |
Frequently Asked Questions
What is Kallmann Syndrome Type 5?
What are the symptoms of Kallmann Syndrome Type 5?
How is Kallmann Syndrome Type 5 diagnosed?
What is the cost of the CHD7 gene NGS test in India?
What sample is required for the test?
How long does it take to get results?
Is fasting required before the test?
Can the test be done at home?
What does a positive test result mean?
What if the test is negative?
Is genetic counseling included?
Is the test covered by insurance?
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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.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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