CDK6 Gene Microcephaly, autosomal recessive type 12 NGS Genetic Test
Short Name: CDK6 Microcephaly NGS Test
Also known as: CDK6-related microcephaly, Autosomal recessive microcephaly type 12
CDK6 Gene Microcephaly, autosomal recessive type 12 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 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 CDK6 Gene Microcephaly NGS Genetic Test is to detect pathogenic mutations in the CDK6 gene that cause autosomal recessive microcephaly type 12. This test aids in confirming diagnosis, guiding treatment decisions, facilitating genetic counseling for families, and enabling early intervention to improve patient outcomes.
- Test Code
- 2768
- 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)
Sample Collection
No specific preparation is required. Ensure a clinical history and genetic counseling session are completed prior to sample collection.
Method: Venipuncture or blood drop
Laboratory Analysis
A blood sample will be collected via venipuncture or a blood drop on an FTA card by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store the sample as instructed and transport to the lab promptly.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the CDK6 Gene Microcephaly NGS Genetic Test is to detect pathogenic mutations in the CDK6 gene that cause autosomal recessive microcephaly type 12. This test aids in confirming diagnosis, guiding treatment decisions, facilitating genetic counseling for families, and enabling early intervention to improve patient outcomes.
How to Prepare
- Use sterile equipment for blood collection
- Label the sample correctly with patient details
- Avoid hemolysis by gentle handling of the blood sample
- For FTA cards, ensure the blood drop is fully absorbed and dried
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for CDK6 mutations is essential for accurate diagnosis and family counseling in cases of suspected autosomal recessive microcephaly, enabling early intervention and management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Contaminated or hemolyzed sample
- Incorrect labeling or missing patient information
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of autosomal recessive microcephaly type 12. Genetic counseling and management planning recommended.
No pathogenic variant detected
Reduces likelihood of CDK6-related microcephaly. Consider other genetic or environmental causes.
Variant of uncertain significance
Further family studies or functional analysis may be needed. Clinical correlation is essential.
Consult a doctor or genetic specialist if the test results are positive, if there is a family history of microcephaly, or if symptoms persist despite negative results. Early consultation can guide appropriate interventions and support.
Limitations
- ⚠May not detect all types of genetic variants, such as large deletions or duplications
- ⚠Results require interpretation by a qualified geneticist
- ⚠Does not rule out other genetic causes of microcephaly
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact of genetic results, mitigated by counseling
Interfering Factors
- ●Sample contamination during collection or transport
- ●Degraded DNA due to improper storage
- ●Presence of inhibitors in the sample affecting NGS analysis
Compare With Similar Tests
| Test | CDK6 Gene Microcephaly, autosomal recessive type 12 NGS Genetic Test | Whole Exome Sequencing | Chromosomal Microarray | TORCH Panel | Metabolic Screening |
|---|---|---|---|---|---|
| Comparison | CDK6 Gene Microcephaly, autosomal recessive type 12 NGS Genetic Test |
Frequently Asked Questions
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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.
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.
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