CNKSR2 Gene Intellectual disability nonsyndromic, CNKSR2 related NGS Genetic Test
Short Name: CNKSR2 Gene NGS Test
Also known as: CNKSR2 Gene Mutation Test, CNKSR2-Related ID Genetic Test, X-Linked Intellectual Disability CNKSR2 Test, CNKSR2 NGS Sequencing Test, Connector Enhancer of Kinase Suppressor of Ras 2 Gene Test
CNKSR2 Gene Intellectual disability nonsyndromic, CNKSR2 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation Sequencing, Bioinformatic Analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt 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 primary purpose of the CNKSR2 Gene NGS Genetic Test is to identify pathogenic or likely pathogenic variants in the CNKSR2 gene that may be responsible for nonsyndromic intellectual disability in the affected individual. This test aids in establishing a definitive molecular diagnosis, understanding the mode of inheritance (X-linked recessive), guiding clinical management and therapeutic planning, enabling accurate genetic counselling for family members, and facilitating informed reproductive decision-making for current and future pregnancies.
- Test Code
- 1643
- CPT Code
- 81404
- ICD Code
- F70-F79
- 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 at the laboratory
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation Sequencing, Bioinformatic Analysis
Sample Collection
No special preparation such as fasting is required. A pre-test genetic counselling session is recommended to construct a family pedigree, discuss inheritance patterns, and obtain informed consent. Please provide the complete clinical history of the patient going for CNKSR2 Gene Intellectual Disability Nonsyndromic NGS Genetic Test.
Method: Venipuncture / Finger Prick (FTA Card)
Laboratory Analysis
A blood sample of approximately 3-5 mL will be collected via venipuncture from a vein in the arm. Alternatively, one drop of blood may be spotted onto an FTA card. The procedure takes approximately 5-10 minutes and involves minimal discomfort.
Report Delivery
Apply gentle pressure with cotton or a bandage at the puncture site. Avoid strenuous use of the arm for a few hours. Results will be available within 3 to 4 weeks and will be delivered via the online portal, email, or WhatsApp as preferred.
Timeline: 3 to 4 Weeks from sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the CNKSR2 Gene NGS Genetic Test is to identify pathogenic or likely pathogenic variants in the CNKSR2 gene that may be responsible for nonsyndromic intellectual disability in the affected individual. This test aids in establishing a definitive molecular diagnosis, understanding the mode of inheritance (X-linked recessive), guiding clinical management and therapeutic planning, enabling accurate genetic counselling for family members, and facilitating informed reproductive decision-making for current and future pregnancies.
How to Prepare
- Ensure informed consent has been obtained from the patient or legal guardian prior to sample collection
- A genetic counselling session must be completed to prepare the family pedigree chart
- Blood should be collected in an EDTA (lavender top) vacutainer
- Gently invert the tube 8-10 times after collection to prevent clotting
- Label the sample clearly with patient name, date of birth, and unique identifier
- If using an FTA card, allow the blood spot to dry completely before packaging
- Store and transport the sample at ambient room temperature
- Ship the sample to the laboratory within 48 hours of collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"CNKSR2 gene mutations are associated with X-linked nonsyndromic intellectual disability, predominantly affecting males. Early genetic diagnosis through NGS allows families to understand the inheritance pattern, plan for future pregnancies with appropriate genetic counselling, and initiate early developmental interventions that may significantly improve the child's outcomes. I recommend this test for any child presenting with unexplained intellectual disability, especially when there is a maternal family history suggestive of X-linked inheritance."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in incorrect anticoagulant tube
- Haemolysed, clotted, or insufficient volume sample
- Sample received without proper patient identification or labelling
- Sample contaminated or showing signs of bacterial growth
- Sample older than 7 days (for blood) without prior arrangement
- Missing or incomplete consent form and clinical history
Understanding Your Results
A known disease-causing mutation in the CNKSR2 gene has been identified. This confirms a molecular diagnosis of CNKSR2-related nonsyndromic intellectual disability. Genetic counselling is strongly recommended for the family regarding inheritance risk, carrier testing for female relatives, and reproductive options.
Action: Consult with a clinical geneticist or neurologist for management planning and arrange family cascade testing.
Result type: Pathogenic Variant Detected
A variant with strong evidence supporting disease causation has been found. Clinical correlation and possible segregation studies in other family members may be recommended to strengthen the classification.
Action: Consult your genetic counsellor. Family member testing may help confirm the variant classification.
Result type: Likely Pathogenic Variant Detected
A genetic change has been detected, but current evidence is insufficient to determine whether it causes disease. This result alone cannot confirm or exclude a diagnosis.
Action: Clinical follow-up is advised. The variant may be reclassified as new evidence becomes available. Consider additional family studies.
Result type: Variant of Uncertain Significance (VUS)
The variant identified is considered unlikely to be associated with disease based on available evidence.
Action: No specific action related to CNKSR2-related intellectual disability is indicated. Further investigation for other genetic or non-genetic causes may be warranted.
Result type: Likely Benign / Benign Variant
No pathogenic or likely pathogenic variants were identified in the CNKSR2 gene. This reduces but does not entirely exclude the possibility of a CNKSR2-related condition.
Action: Discuss with your clinician regarding alternative diagnostic possibilities, additional genetic testing panels, or whole exome/genome sequencing.
Result type: No Pathogenic Variant Detected
Consult your doctor or genetic counsellor if your child shows signs of unexplained intellectual disability, delayed milestones, speech and language difficulties, or if there is a family history of X-linked intellectual disability. If a pathogenic variant is identified, consult a clinical geneticist for comprehensive management planning, developmental intervention referrals, and family cascade testing.
Limitations
- ⚠This test analyses only the CNKSR2 gene and does not screen for mutations in other intellectual disability-associated genes
- ⚠Deep intronic regulatory variants and trinucleotide repeat expansions may not be detected
- ⚠A negative result does not completely exclude a genetic basis for the intellectual disability
- ⚠Variants of Uncertain Significance (VUS) may be identified and may require additional family studies for classification
- ⚠Structural rearrangements and large deletions/duplications may require complementary techniques such as MLPA or chromosomal microarray
Risks & Considerations
- ●Minimal physical risk from blood draw: slight bruising, pain at puncture site, or rare lightheadedness
- ●Psychological impact of receiving genetic test results, especially if a pathogenic variant is identified
- ●Potential for identification of variants of uncertain significance (VUS) that may cause anxiety without providing a definitive answer
- ●Implications for family members who may be carriers or at risk of carrying the identified variant
Interfering Factors
- ●Degraded or low-quality DNA extraction may affect sequencing results
- ●Recent blood transfusion within the past 4 weeks may contaminate the sample
- ●Presence of mosaicism may limit detection sensitivity for low-level variants
- ●Large copy number variations (CNVs) may not be fully detected by standard NGS protocols
Compare With Similar Tests
| Test | CNKSR2 Gene Intellectual disability nonsyndromic, CNKSR2 related NGS Genetic Test | Whole Exome Sequencing (WES) | Intellectual Disability Gene Panel | Chromosomal Microarray (CMA) | Fragile X Syndrome (FMR1) Genetic Test |
|---|---|---|---|---|---|
| Comparison | CNKSR2 Gene Intellectual disability nonsyndromic, CNKSR2 related NGS Genetic Test | WES analyses all protein-coding genes across the genome, providing broader coverage but at a higher cost and longer turnaround time. The CNKSR2 targeted test offers focused analysis with faster results and lower cost when CNKSR2-related ID is clinically suspected. | An ID gene panel analyses multiple genes simultaneously associated with intellectual disability. While more comprehensive than single-gene testing, it may identify variants of uncertain significance in multiple genes, making interpretation more complex. | CMA detects large copy number variations (deletions and duplications) across the genome but cannot identify single nucleotide variants or small indels within the CNKSR2 gene. NGS testing is required for point mutation detection. | Fragile X testing targets the FMR1 gene trinucleotide repeat expansion, another common cause of X-linked intellectual disability. A negative Fragile X result may prompt CNKSR2 testing as part of a diagnostic workup. |
Frequently Asked Questions
What is CNKSR2-related intellectual disability?
What does the CNKSR2 Gene NGS Genetic Test detect?
Who should get the CNKSR2 Gene NGS Genetic Test?
How is the sample collected for this test?
Is fasting required before the CNKSR2 Gene NGS Genetic Test?
What is the cost of the CNKSR2 Gene NGS Genetic Test at DNA Labs India?
How long does it take to get the results?
What happens if a pathogenic variant is found?
Can female carriers of a CNKSR2 mutation be affected?
Is the CNKSR2 Gene NGS Test available across India?
Is genetic counselling included with this test?
What if the test result is negative?
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