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CEP63 Gene Seckel syndrome type 6 NGS Genetic Test

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CEP63 Gene Seckel syndrome type 6 NGS Genetic Test

Short Name: CEP63 NGS Test

Also known as: CEP63 Gene Sequencing, Seckel Syndrome Type 6 Genetic Test, CEP63 Mutation Analysis

CEP63 Gene Seckel syndrome type 6 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 typically delivered within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS (Next-Generation Sequencing)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this test is to confirm or rule out a clinical diagnosis of Seckel Syndrome Type 6 by identifying pathogenic mutations in the CEP63 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with a known mutation.

Test Code
5923
CPT Code
81407
ICD Code
Q87.1
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically delivered within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. However, a genetic counseling session is recommended prior to testing to discuss the implications and obtain informed consent.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

Blood sample is drawn by a trained phlebotomist. For FTA card, a few drops of blood are placed on the card and allowed to dry.

Step 3

Report Delivery

No specific precautions. Resume normal activities immediately.

Timeline: Reports are typically delivered within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:No fasting required. However, a pre-test genetic counseling session is recommended to discuss the purpose, risks, and benefits of the test.
2
During the Test:A blood sample is collected. The procedure is quick and minimally invasive.
3
After the Test:You can resume normal activities. Results will be available in 3-4 weeks. A post-test counseling session is recommended to discuss the results.

About This Test

Who Should Get This Test

The purpose of this test is to confirm or rule out a clinical diagnosis of Seckel Syndrome Type 6 by identifying pathogenic mutations in the CEP63 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with a known mutation.

How to Prepare

  • Ensure the patient's identity is verified
  • Use sterile EDTA vacutainer for blood collection
  • If using FTA card, allow blood to dry completely before packaging
  • Label the sample with patient name, date, and unique ID
  • Transport at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Early genetic diagnosis of Seckel syndrome is crucial for appropriate management and family counseling. This NGS test provides comprehensive analysis of the CEP63 gene, aiding in accurate diagnosis and prognosis."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 drop on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Blood: 7 days at room temperature, 14 days at 2-8°C
Extracted DNA: 1 year at -20°C
FTA card: Stable for years at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling
  • Sample received after prolonged delay without proper storage

Understanding Your Results

The test report will indicate whether a pathogenic variant was identified in the CEP63 gene. If a variant is found, it will be classified according to ACMG guidelines.
📊

Positive (Pathogenic variant detected)

Confirms diagnosis of Seckel Syndrome Type 6. Genetic counseling and family screening recommended.

📊

Negative (No pathogenic variant detected)

Reduces likelihood of CEP63-related Seckel syndrome, but other genes may be involved. Consider broader panel.

📊

Variant of Uncertain Significance (VUS)

Further testing of family members and functional studies may be needed to clarify significance.

⚠️ When to Consult a Doctor:

Consult a medical geneticist or pediatrician if the child shows microcephaly, growth retardation, or dysmorphic features. Also, if there is a family history of Seckel syndrome, genetic counseling is advised before testing.

Limitations

  • ⚠This test does not detect all possible mutations (e.g., large rearrangements, deep intronic variants)
  • ⚠Variant of uncertain significance (VUS) may be reported, requiring further analysis
  • ⚠Negative result does not completely rule out Seckel syndrome if clinical suspicion is high
  • ⚠Genetic counseling is recommended to interpret results

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of receiving a genetic diagnosis
  • ●Potential for incidental findings

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Incomplete clinical information
  • ●Presence of large deletions/duplications not detected by standard NGS
  • ●Mutations in non-coding regulatory regions

Compare With Similar Tests

TestCEP63 Gene Seckel syndrome type 6 NGS Genetic TestChromosomal Microarray (CMA)Whole Exome Sequencing (WES)Targeted CEP63 Sanger Sequencing
ComparisonCEP63 Gene Seckel syndrome type 6 NGS Genetic Test

Frequently Asked Questions

What is Seckel Syndrome Type 6?
Seckel Syndrome Type 6 is a rare genetic disorder caused by mutations in the CEP63 gene. It is characterized by severe growth retardation, microcephaly, intellectual disability, and distinctive facial features.
How is the CEP63 gene test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the entire coding region of the CEP63 gene from a blood or DNA sample. It detects mutations that may cause Seckel Syndrome Type 6.
What is the cost of the CEP63 gene test in India?
The cost is INR 20,000 at DNA Labs India. This includes the genetic test, home sample collection, and a genetic counseling session.
Is fasting required before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
What sample is needed for the test?
The sample can be either 2-3 ml of blood in an EDTA tube, extracted DNA, or a single drop of blood on an FTA card.
How long does it take to get the results?
The turnaround time is typically 3 to 4 weeks from the date of sample receipt at the laboratory.
Can the test be done on a newborn?
Yes, the test can be performed on individuals of any age, including newborns, as long as a blood or DNA sample can be obtained.
What does a positive result mean?
A positive result indicates the presence of a pathogenic mutation in the CEP63 gene, confirming the diagnosis of Seckel Syndrome Type 6. Genetic counseling is recommended.
What if the result is negative?
A negative result means no pathogenic mutation was found in the CEP63 gene. However, it does not completely rule out Seckel syndrome, as other genes may be involved.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in over 200 cities across India. You can book online and a phlebotomist will visit your location.
Do I need a doctor's prescription for this test?
While a prescription is not mandatory, it is recommended to consult a geneticist or pediatrician before undergoing the test to ensure it is appropriate for your situation.
Will my insurance cover the cost?
Insurance coverage varies. It is advisable to check with your insurance provider. DNA Labs India does not directly bill insurance, but we provide all necessary documentation for reimbursement.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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