VPS13B Gene Cohen syndrome NGS Genetic Test
Short Name: VPS13B Cohen Syndrome NGS
Also known as: Cohen Syndrome Genetic Test, VPS13B Gene Sequencing, Cohen Syndrome NGS Panel, VPS13B Mutation Analysis, Cohen Syndrome DNA Test
VPS13B Gene Cohen syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks. 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 VPS13B Gene Cohen Syndrome NGS Genetic Test is to provide a definitive molecular diagnosis of Cohen Syndrome by identifying pathogenic or likely pathogenic variants in the VPS13B gene. This test aids clinicians in confirming a clinical suspicion, differentiating Cohen Syndrome from other genetic disorders with similar phenotypic features, guiding appropriate medical management, facilitating accurate genetic counselling for affected families, enabling carrier status determination for at-risk family members, and supporting informed reproductive decision-making.
- Test Code
- 1566
- CPT Code
- 81479
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation
Sample Collection
No special preparation such as fasting is required. A genetic counselling session is recommended prior to testing to draw a pedigree chart of family members affected with Cohen Syndrome and to discuss the implications of the test results.
Method: Venipuncture
Laboratory Analysis
A venipuncture blood draw will be performed by a trained phlebotomist. Approximately 3-5 mL of blood will be collected in an EDTA tube. Alternatively, a single drop of blood can be collected on an FTA card for patients in remote areas.
Report Delivery
Apply gentle pressure with cotton or gauze at the venipuncture site. The sample will be transported under appropriate conditions to DNA Labs India for processing. Avoid strenuous use of the arm used for the blood draw for several hours.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the VPS13B Gene Cohen Syndrome NGS Genetic Test is to provide a definitive molecular diagnosis of Cohen Syndrome by identifying pathogenic or likely pathogenic variants in the VPS13B gene. This test aids clinicians in confirming a clinical suspicion, differentiating Cohen Syndrome from other genetic disorders with similar phenotypic features, guiding appropriate medical management, facilitating accurate genetic counselling for affected families, enabling carrier status determination for at-risk family members, and supporting informed reproductive decision-making.
How to Prepare
- Ensure patient identity is verified and labelled correctly on the sample tube
- Collect 3-5 mL of peripheral blood in an EDTA (Lavender Top) tube
- Alternatively, one drop of blood on an FTA card is accepted
- Gently invert the tube 8-10 times to mix with anticoagulant
- Do not freeze whole blood samples; store at 2-8°C if not dispatched immediately
- Ensure the sample reaches the laboratory within 48 hours of collection
- Complete the requisition form with clinical history and family pedigree details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Cohen Syndrome is a rare autosomal recessive disorder that is often underdiagnosed due to its phenotypic overlap with other genetic syndromes. Genetic confirmation through NGS testing of the VPS13B gene is essential for accurate diagnosis, appropriate genetic counselling, and informed family planning decisions. Early diagnosis allows for proactive management of ophthalmologic, hematologic, and developmental complications associated with this condition."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper patient identification or labelling
- Haemolysed, clotted, or insufficient sample volume
- Sample collected in incorrect tube type (not EDTA or FTA card)
- Sample contaminated or improperly stored
- Requisition form missing clinical history or consent documentation
Understanding Your Results
Pathogenic Variant(s) Detected
Confirms the diagnosis of Cohen Syndrome. Two pathogenic variants in trans (on different alleles) in the VPS13B gene are consistent with autosomal recessive Cohen Syndrome. Genetic counselling and appropriate management referrals are recommended.
Likely Pathogenic Variant(s) Detected
Strongly suggests Cohen Syndrome. Further family studies and clinical correlation are advised. The report should be interpreted by a clinical geneticist.
Variant of Uncertain Significance (VUS)
A variant was identified that cannot currently be classified as pathogenic or benign. Clinical correlation, parental testing, and functional studies may help clarify the significance. Repeat testing or referral to a specialist may be considered.
No Pathogenic Variant Detected
No pathogenic or likely pathogenic variants were identified in the VPS13B gene coding regions. Clinical features may still warrant further investigation with additional genetic panels, whole exome sequencing, or chromosomal microarray analysis.
Carrier Status (Heterozygous)
One pathogenic variant detected. The individual is a carrier of Cohen Syndrome. Carriers are typically unaffected but have a 50% chance of passing the variant to offspring. Partner testing is recommended for reproductive planning.
Consult a clinical geneticist or your referring physician if the test result is positive, likely pathogenic, or reveals a Variant of Uncertain Significance (VUS). Immediate consultation is recommended if the affected individual shows worsening vision, recurrent infections due to neutropenia, or significant developmental regression. Genetic counselling is advised for all family members to understand inheritance patterns and reproductive risks.
Limitations
- ⚠This test does not detect large chromosomal rearrangements, deep intronic variants, or epigenetic changes in the VPS13B gene
- ⚠Variants of Uncertain Significance (VUS) may be identified and may require further investigation or family segregation studies
- ⚠Somatic mosaicism at low levels may not be detected
- ⚠This test is specific to the VPS13B gene and does not screen for mutations in other genes associated with intellectual disability or retinal dystrophy
- ⚠Negative results do not entirely exclude Cohen Syndrome if caused by variants in regulatory or non-coding regions not covered by this test
Risks & Considerations
- ●Minimal risk associated with blood draw: mild bruising, slight pain, or rarely, infection at the venipuncture site
- ●Psychological impact of genetic diagnosis may cause anxiety or distress; genetic counselling is strongly recommended
- ●Identification of Variants of Uncertain Significance may cause confusion and require further investigation
- ●Implications for family members including carrier status and reproductive decisions should be discussed with a genetic counsellor
Interfering Factors
- ●Degraded DNA samples due to improper storage, transport, or handling
- ●Contamination of the sample with external DNA
- ●Blood transfusion within the past 30 days may affect results
- ●Bone marrow transplant patients may show donor DNA profile
- ●Presence of inhibitors in the extracted DNA may reduce sequencing quality
Compare With Similar Tests
| Test | VPS13B Gene Cohen syndrome NGS Genetic Test | |||||
|---|---|---|---|---|---|---|
| Comparison | VPS13B Gene Cohen syndrome NGS Genetic Test |
Frequently Asked Questions
What is the VPS13B Gene Cohen Syndrome NGS Genetic Test?
What is Cohen Syndrome and what causes it?
Who should get the VPS13B Gene Cohen Syndrome NGS Genetic Test?
What sample is required for this test?
How much does the VPS13B Gene Cohen Syndrome NGS Genetic Test cost?
How long does it take to get the test results?
What does a positive result mean?
What does a negative result mean?
Is Cohen Syndrome inherited?
Is this test available across India?
Will I receive raw genetic data files along with the clinical report?
What is the role of genetic counselling before and after this test?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference 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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ 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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.