SLC4A11 Gene Corneal Endothelial Dystrophy Type 2 NGS Genetic Test
Short Name: CHED2 SLC4A11 NGS Test
Also known as: CHED2 Genetic Test, SLC4A11 Gene Sequencing Test, Congenital Hereditary Endothelial Dystrophy Type 2 Genetic Test, SLC4A11 NGS Panel Test, Corneal Dystrophy Molecular Diagnostic Test
SLC4A11 Gene Corneal Endothelial Dystrophy Type 2 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 from the date of sample receipt at the laboratory. Results are delivered via the online patient portal, email, and WhatsApp.. 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 the SLC4A11 Gene Corneal Endothelial Dystrophy Type 2 NGS Genetic Test is to identify pathogenic mutations in the SLC4A11 gene responsible for CHED2. This test enables definitive molecular diagnosis, helps differentiate CHED2 from other hereditary and non-hereditary corneal conditions, supports clinical management and surgical decision-making, and provides essential information for genetic counseling, family planning, carrier screening, and prenatal testing in families affected by this condition.
- Test Code
- 1491
- CPT Code
- 81479
- ICD Code
- H18.5
- 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 from the date of sample receipt at the laboratory. Results are delivered via the online patient portal, email, and WhatsApp.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
A pre-test genetic counseling session is strongly recommended to discuss the implications of genetic testing, obtain informed consent, and draw a pedigree chart of family members affected with or at risk for SLC4A11 gene mutations. Clinical history of the patient, including age of onset, symptoms, family history, and prior ophthalmological evaluations, should be documented. No fasting is required for this test.
Method: Venipuncture or Finger Prick (FTA Card)
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA (lavender-top) vacutainer via standard venipuncture. Alternatively, a single drop of blood may be collected on an FTA card via finger prick. The sample will be labeled, sealed, and transported under ambient room temperature conditions to the testing laboratory.
Report Delivery
The blood sample is processed for DNA extraction followed by next-generation sequencing of the SLC4A11 gene. Results are typically available within 3 to 4 weeks. The comprehensive clinical report, along with raw data files (FASTQ and VCF formats), will be shared with the patient and referring physician through the online portal, email, and WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Results are delivered via the online patient portal, email, and WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the SLC4A11 Gene Corneal Endothelial Dystrophy Type 2 NGS Genetic Test is to identify pathogenic mutations in the SLC4A11 gene responsible for CHED2. This test enables definitive molecular diagnosis, helps differentiate CHED2 from other hereditary and non-hereditary corneal conditions, supports clinical management and surgical decision-making, and provides essential information for genetic counseling, family planning, carrier screening, and prenatal testing in families affected by this condition.
How to Prepare
- Collect 3-5 mL venous blood in an EDTA vacutainer (lavender/purple top) via standard venipuncture or apply one drop of blood on an FTA card via finger prick
- Ensure proper patient identification and sample labeling at the time of collection
- Mix the blood gently with EDTA by inverting the tube 8-10 times immediately after collection
- Do not freeze the sample; store and transport at ambient room temperature (15-30°C)
- Ship the sample to DNA Labs India within 48 hours of collection
- Include the completed test requisition form, informed consent, and clinical history documentation
- Free home sample collection is available for online bookings across major cities in India including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, Jaipur, Lucknow, Chandigarh, Kochi, Coimbatore, Bhubaneswar, and many more
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"From a clinical ophthalmology perspective, the SLC4A11 gene test is invaluable for confirming CHED2 in infants and children presenting with bilateral corneal clouding. Early molecular diagnosis allows differentiation of CHED2 from other causes of congenital corneal opacity such as Peter anomaly, sclerocornea, or congenital glaucoma. This distinction is critical for surgical planning, as patients with confirmed CHED2 may benefit from early endothelial keratoplasty or penetrating keratoplasty. Genetic confirmation also enables accurate recurrence risk counseling for families planning future pregnancies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample in EDTA tube
- Sample collected in heparin (green top) tube, as heparin interferes with PCR and NGS
- Insufficient sample volume (less than 2 mL for whole blood)
- Leaking, damaged, or unlabeled sample container
- Sample received without proper documentation or informed consent
- Contaminated or hemolyzed sample
Understanding Your Results
Pathogenic Variant Detected (Homozygous)
Confirms the diagnosis of CHED2. Two copies of a pathogenic mutation in SLC4A11 have been identified, consistent with autosomal recessive inheritance. Both parents are expected to be carriers. Genetic counseling for family planning and carrier testing for siblings is recommended.
Pathogenic Variant Detected (Compound Heterozygous)
Confirms the diagnosis of CHED2. Two different pathogenic mutations in SLC4A11 have been identified on opposite alleles. Each parent is expected to carry one of the mutations. Genetic counseling for family members is recommended.
Single Pathogenic or Likely Pathogenic Variant (Heterozygous Carrier)
The individual is a carrier of one pathogenic SLC4A11 variant. While typically asymptomatic, carrier testing of the partner and genetic counseling for reproductive planning is recommended. Further analysis or testing of additional genes may be warranted if clinical suspicion for CHED2 remains high.
Variant of Uncertain Significance (VUS) Detected
A variant in SLC4A11 has been identified but cannot be classified as definitively pathogenic or benign based on current evidence. Clinical correlation with ophthalmological findings and family studies is recommended. Repeat analysis may be warranted as new data becomes available.
No Pathogenic Variant Detected
No disease-causing mutations were identified in the coding region and splice-site junctions of the SLC4A11 gene. This result does not completely exclude CHED2 if large structural variants or deep intronic mutations are present. Clinical correlation is advised, and testing of other genes associated with congenital corneal dystrophies may be considered.
Consult your ophthalmologist or geneticist if your test reveals a pathogenic or likely pathogenic variant in the SLC4A11 gene, if a Variant of Uncertain Significance is detected, or if clinical symptoms persist despite a negative genetic result. Additionally, seek genetic counseling if you are planning a family and are found to be a carrier, or if you need guidance regarding treatment options such as corneal transplantation for an affected child.
Limitations
- ⚠Test may not detect large structural variants, copy number variations, or deep intronic mutations outside the sequenced regions
- ⚠Variants of Uncertain Significance (VUS) may be identified and cannot definitively confirm or exclude disease
- ⚠This test does not predict disease severity, age of onset, or rate of progression
- ⚠Results must be interpreted in conjunction with clinical findings, family history, and ophthalmological examination
- ⚠Regulatory and promoter region variants are not assessed by this test
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Slight risk of infection at the blood collection puncture site
- ●Fainting or lightheadedness during or after blood draw in sensitive individuals
- ●Psychological distress related to genetic test results, particularly if pathogenic variants are identified
- ●Risk of identifying Variants of Uncertain Significance (VUS) which may cause anxiety without providing definitive answers
Interfering Factors
- ●Contaminated or degraded DNA sample due to improper storage or handling
- ●Recent blood transfusion (within 120 days) may affect genotyping accuracy
- ●Clotted blood samples may reduce DNA yield and quality
- ●Sample mislabeling or improper patient identification
Compare With Similar Tests
| Test | SLC4A11 Gene Corneal Endothelial Dystrophy Type 2 NGS Genetic Test | Sanger Sequencing of SLC4A11 | Clinical Slit-Lamp Examination Only | Corneal Pachymetry | Specular Microscopy |
|---|---|---|---|---|---|
| Comparison | SLC4A11 Gene Corneal Endothelial Dystrophy Type 2 NGS Genetic Test |
Frequently Asked Questions
What is the SLC4A11 Gene Corneal Endothelial Dystrophy Type 2 NGS Genetic Test?
Who should undergo this genetic test?
What sample types are accepted for this test?
How long does it take to receive the test results?
What is the cost of the SLC4A11 CHED2 Genetic Test in India?
Is this genetic test covered by health insurance in India?
What does a positive test result mean?
Can this test be performed on newborns and children?
Is genetic counseling required before taking this test?
What is the difference between CHED1 and CHED2?
Does DNA Labs India provide raw genetic data files with the test report?
Is home sample collection available for this genetic test?
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