RAX2 Gene Cone-Rod Dystrophy Type 11 NGS Genetic Test
Short Name: RAX2 Gene CRD11 NGS Test
Also known as: RAX2 Gene Mutation Analysis, Cone-Rod Dystrophy Type 11 Genetic Test, CRD11 NGS Test, RAX2 Sequencing for CRD11
RAX2 Gene Cone-Rod Dystrophy Type 11 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 after the sample is received at 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
The purpose of this test is to identify pathogenic or likely pathogenic variants in the RAX2 gene associated with Cone-Rod Dystrophy Type 11. It is used to confirm a clinical diagnosis of CRD11, support disease management, and provide information for genetic counselling and recurrence risk assessment in affected families.
- Test Code
- 3805
- 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 after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please bring any previous eye examination records, relevant clinical summaries, and family history details. A genetic counselling session will be arranged before testing to draw a pedigree chart and obtain informed consent.
Method: Peripheral venipuncture or FTA card blood spot
Laboratory Analysis
A small blood sample will be collected by peripheral venipuncture into an EDTA tube, or a single drop of blood may be applied to an FTA card. The procedure is quick and performed under standard infection control precautions.
Report Delivery
The sample is labeled, stored, and transported to the laboratory at ambient temperature. No special precautions are needed after sample collection. You will be informed about the expected reporting time of 3 to 4 weeks.
Timeline: Reports are delivered within 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the RAX2 gene associated with Cone-Rod Dystrophy Type 11. It is used to confirm a clinical diagnosis of CRD11, support disease management, and provide information for genetic counselling and recurrence risk assessment in affected families.
How to Prepare
- No fasting required
- Bring a valid photo ID for patient identification
- Bring previous ophthalmology reports and family history documents
- Ensure consent form is signed before sample collection
- FTA card samples must be dried completely and stored in the protective pouch
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for inherited retinal disorders should always be ordered with pre- and post-test genetic counselling to interpret results accurately and assess familial risk."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Insufficient sample quantity
- Improperly labeled sample
- Sample exposed to extreme heat or repeated freeze-thaw cycles
- FTA card contaminated or wet at the time of receipt
Understanding Your Results
Positive
A pathogenic or likely pathogenic variant was detected in the RAX2 gene, confirming the molecular diagnosis of Cone-Rod Dystrophy Type 11.
Negative
No pathogenic or likely pathogenic variant was detected in RAX2. This reduces but does not entirely exclude a genetic cause for the condition.
Variant of uncertain significance (VUS)
A genetic change of unknown clinical significance was identified. Further family testing and clinical correlation may be needed to determine its role.
Consult your ophthalmologist and a clinical geneticist if you or your child experience progressive colour vision problems, central vision loss, night blindness, photophobia, or have a family history of inherited retinal dystrophy. Early genetic testing can help establish a diagnosis and guide management.
Limitations
- ⚠This test is targeted to the RAX2 gene and does not analyze all genes associated with inherited retinal dystrophy
- ⚠Large deletions, duplications, or complex rearrangements may not be identified by standard NGS alone
- ⚠Variants of uncertain significance may require additional family segregation studies
- ⚠Negative results do not exclude a genetic cause if the clinical suspicion is high
- ⚠The test should be interpreted in the context of clinical findings and family history
Risks & Considerations
- ●Minimal risk of mild bruising or pain at the venipuncture site
- ●Rare possibility of dizziness or vasovagal response during blood collection
- ●FTA card blood spot collection has no needle-related risk
- ●No significant medical risks associated with genetic testing itself
Interfering Factors
- ●Poor quality or degraded DNA
- ●Sample contamination with another individual's DNA
- ●Low-level somatic mosaicism
- ●Genetic variants in primer binding regions affecting amplification
- ●Large structural rearrangements that may not be reliably detected by standard NGS
Compare With Similar Tests
| Test | RAX2 Gene Cone-Rod Dystrophy Type 11 NGS Genetic Test | |
|---|---|---|
| Comparison | RAX2 Gene Cone-Rod Dystrophy Type 11 NGS Genetic Test |
Frequently Asked Questions
What is the RAX2 Gene Cone-Rod Dystrophy Type 11 NGS Genetic Test?
What is the cost of the RAX2 gene CRD11 NGS genetic test?
Which sample is required for this test?
Is fasting required before the test?
How long does it take to get the report?
What does a positive test result mean?
What does a negative test result mean?
What is a variant of uncertain significance?
Why should I ask for Raw Data, FASTQ and VCF files?
Is genetic counselling included with this test?
Does DNA Labs India provide home sample collection for this test?
Which doctors should be involved in managing CRD11?
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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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