ADAM9 Gene Cone-Rod Dystrophy Type 9 NGS Genetic Test
Short Name: ADAM9 CRD9 NGS Test
Also known as: Cone-Rod Dystrophy 9 Gene Test, ADAM9 Gene Mutation Analysis, ADAM9-related Inherited Retinal Disorder NGS Test
ADAM9 Gene Cone-Rod Dystrophy Type 9 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in Reports will be delivered 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
To confirm a suspected diagnosis of cone-rod dystrophy type 9 by identifying pathogenic variants in the ADAM9 gene using NGS technology. The test also supports genetic counselling, family screening, and informed clinical management of affected individuals.
- Test Code
- 3817
- CPT Code
- NA
- ICD Code
- H35.54
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- Reports will be delivered in 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please carry any previous eye examination reports, clinical summary, and relevant family history. A genetic counselling session is recommended before testing to draw a pedigree chart and discuss the implications of the result.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect a small blood sample from a vein in the arm. The procedure is quick and routine.
Report Delivery
You can resume normal activities immediately after blood collection. The sample will be transported to the laboratory for NGS analysis.
Timeline: Reports will be delivered in 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To confirm a suspected diagnosis of cone-rod dystrophy type 9 by identifying pathogenic variants in the ADAM9 gene using NGS technology. The test also supports genetic counselling, family screening, and informed clinical management of affected individuals.
How to Prepare
- No fasting is required
- Please carry a valid doctor's referral and clinical summary
- Home sample collection is available; a trained phlebotomist will visit
- Genetic counseling and pedigree analysis are recommended before testing
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Inherited retinal diseases require correlation between clinical findings, family history, and genetic results. Prompt referral to a clinical geneticist helps confirm the diagnosis and guide family counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Incorrectly labelled sample
- Clotted or haemolysed blood sample
- Sample received without the required requisition form or clinical history
Understanding Your Results
No pathogenic variant detected in ADAM9
No evidence of ADAM9-related cone-rod dystrophy type 9. Evaluation of other inherited retinal disease genes may be considered.
Pathogenic or likely pathogenic variant detected in ADAM9
Confirms the genetic diagnosis of cone-rod dystrophy type 9 in the appropriate clinical context. Genetic counselling and family screening are recommended.
Variant of uncertain significance detected in ADAM9
Clinical significance is not yet clear. Further family studies and clinical correlation are needed before making a definitive diagnosis.
Seek prompt ophthalmological evaluation if you or your child have reduced central vision, difficulty recognising faces, photophobia, colour vision problems, or night blindness. A clinical geneticist can then help decide whether genetic testing is appropriate and guide interpretation of the result.
Limitations
- ⚠This targeted test analyzes only the ADAM9 gene; variants in other genes causing similar inherited retinal dystrophies will not be detected
- ⚠The test may not identify large chromosomal rearrangements or deep intronic variants depending on the NGS assay design
- ⚠Results must be interpreted by a clinical geneticist in the context of clinical symptoms, retinal examination, and family history
Risks & Considerations
- ●Minimal pain or bruising at the blood draw site
- ●Mild dizziness or light-headedness during blood collection
- ●Very rare risk of infection at the puncture site
Interfering Factors
- ●Improper sample collection or contamination may affect DNA quality
- ●Incorrect patient identification or sample labelling
- ●Recent allogeneic bone marrow transplantation may cause mixed DNA results in rare situations
Compare With Similar Tests
| Test | ADAM9 Gene Cone-Rod Dystrophy Type 9 NGS Genetic Test | ADAM9 Gene Cone-Rod Dystrophy Type 9 NGS Genetic Test | ADAM9 Gene Cone-Rod Dystrophy Type 9 NGS Genetic Test |
|---|---|---|---|
| Comparison | ADAM9 Gene Cone-Rod Dystrophy Type 9 NGS Genetic Test |
Frequently Asked Questions
What is the ADAM9 Gene Cone-Rod Dystrophy Type 9 NGS Genetic Test?
Which sample is required for this test?
Is fasting required before the test?
How much does the ADAM9 Gene Cone-Rod Dystrophy Type 9 NGS Genetic Test cost?
When will I get the report?
What does a positive result mean?
Can a negative result completely rule out cone-rod dystrophy?
Who should take this test?
Is home sample collection available across India?
Will insurance cover this genetic test?
Can this test be used for prenatal diagnosis?
What should I do after receiving the report?
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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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