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RBBP8 Gene Seckel syndrome type 2 NGS Genetic Test

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RBBP8 Gene Seckel syndrome type 2 NGS Genetic Test

Short Name: RBBP8 Seckel Syndrome NGS

Also known as: Seckel Syndrome Type 2 Genetic Test, RBBP8 Gene Sequencing, Microcephalic Primordial Dwarfism Panel

RBBP8 Gene Seckel syndrome 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 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS (Next-Generation Sequencing)Pediatric, Adult🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify pathogenic variants in the RBBP8 gene that cause Seckel syndrome type 2. It is used to confirm a clinical diagnosis, differentiate from other microcephalic primordial dwarfism syndromes, and provide information for genetic counseling and family planning.

Test Code
5920
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
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. However, a clinical history and genetic counseling session is recommended before the test.

Method: Venipuncture or Finger-prick

Step 2

Laboratory Analysis

Blood sample is collected by a trained phlebotomist. For FTA card, a finger-prick blood drop is applied to the card.

Step 3

Report Delivery

No specific precautions. The sample is sent to the laboratory for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:No special preparation is required. However, a genetic counseling session is recommended to discuss the implications of the test.
2
During the Test:A blood sample is drawn from a vein in the arm. The procedure is quick and minimally invasive.
3
After the Test:You can resume normal activities immediately. Results are typically available in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic variants in the RBBP8 gene that cause Seckel syndrome type 2. It is used to confirm a clinical diagnosis, differentiate from other microcephalic primordial dwarfism syndromes, and provide information for genetic counseling and family planning.

How to Prepare

  • Ensure the patient's identity is verified.
  • Use sterile equipment for blood collection.
  • If using FTA card, allow the blood spot to dry completely before packaging.
  • Label the sample with patient's name, date of birth, and collection date.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Seckel syndrome type 2 is a rare autosomal recessive disorder. Early genetic confirmation is crucial for management and family planning. NGS provides a comprehensive analysis of the RBBP8 gene, aiding in accurate diagnosis."

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 tube or FTA card
Collection MethodVenipuncture or Finger-prick

Sample Stability

Blood in EDTA tube: 24-48 hours at room temperature, 7 days at 2-8°C
Extracted DNA: 1 year at -20°C
FTA card: Stable for years at room temperature
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Clotted blood sample
  • Insufficient sample volume
  • Mislabeled sample
  • Sample received after prolonged transit time without proper storage

Understanding Your Results

The test results are interpreted by a clinical geneticist. A positive result indicates the presence of a pathogenic variant in the RBBP8 gene, confirming the diagnosis of Seckel syndrome type 2. A negative result does not completely rule out the condition, as mutations in other genes may be responsible.
📊

Pathogenic variant detected

Confirms diagnosis of Seckel syndrome type 2. Genetic counseling is recommended for family planning.

📊

Likely pathogenic variant detected

Highly suggestive of the condition; further family studies may be needed to confirm.

📊

Variant of uncertain significance (VUS)

Cannot be definitively classified; additional testing or family segregation analysis may be required.

📊

No pathogenic variant detected

No disease-causing variant found in RBBP8; consider other genetic causes.

⚠️ When to Consult a Doctor:

Consult a geneticist or pediatrician if your child shows symptoms such as microcephaly, growth retardation, or developmental delay. Genetic testing can provide a definitive diagnosis and guide management.

Limitations

  • ⚠This test only analyzes the RBBP8 gene; mutations in other genes causing Seckel syndrome may not be detected.
  • ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
  • ⚠Variant of uncertain significance (VUS) may be reported; further family studies may be needed.
  • ⚠Test does not assess non-coding regulatory regions or deep intronic variants.

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of receiving a genetic diagnosis
  • ●Potential for finding variants of uncertain significance

Interfering Factors

  • ●Contamination of sample with foreign DNA
  • ●Insufficient quantity of DNA
  • ●Presence of maternal cell contamination in prenatal samples
  • ●Recent blood transfusion (may affect DNA extraction)

Compare With Similar Tests

TestRBBP8 Gene Seckel syndrome type 2 NGS Genetic TestWhole Exome SequencingChromosomal MicroarrayTargeted Seckel Syndrome Panel
ComparisonRBBP8 Gene Seckel syndrome type 2 NGS Genetic TestWES analyzes all coding regions of the genome, while this test focuses only on the RBBP8 gene. WES may be considered if RBBP8 testing is negative but clinical suspicion remains high.CMA detects copy number variations (deletions/duplications) but does not detect single nucleotide variants. This NGS test is more suitable for detecting point mutations in RBBP8.A panel may include multiple genes associated with Seckel syndrome, whereas this test is specific to RBBP8. A panel may be more comprehensive if the clinical presentation is atypical.

Frequently Asked Questions

What is Seckel syndrome type 2?
Seckel syndrome type 2 is a rare genetic disorder caused by mutations in the RBBP8 gene. It is characterized by severe growth retardation, microcephaly, intellectual disability, and distinctive facial features.
How is the RBBP8 gene test performed?
The test is performed using Next-Generation Sequencing (NGS) on a blood or saliva sample. The DNA is extracted and the RBBP8 gene is analyzed for mutations.
What is the cost of the test?
The cost of the RBBP8 Gene Seckel Syndrome Type 2 NGS Genetic Test at DNA Labs India is INR 20000, which includes genetic counseling, sample collection, and analysis.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get the results?
The turnaround time is 3 to 4 weeks from the receipt of the sample at the laboratory.
Can the test be done on a saliva sample?
Yes, the test can be performed on a saliva sample, but blood or FTA card samples are also accepted.
What does a positive result mean?
A positive result indicates the presence of a pathogenic variant in the RBBP8 gene, confirming the diagnosis of Seckel syndrome type 2.
What if the result is negative?
A negative result means no pathogenic variant was found in the RBBP8 gene. However, it does not completely rule out Seckel syndrome, as other genes may be involved.
Is genetic counseling included?
Yes, genetic counseling is included in the test price. Our genetic counselors will help you understand the results and their implications.
Can this test be used for prenatal diagnosis?
Yes, the test can be used for prenatal diagnosis if the familial mutation is known. However, it requires prior genetic counseling and appropriate sampling.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across major cities in India.
Are the results confidential?
Yes, all results are kept strictly confidential and shared only with the patient and the referring physician.
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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For Hospitals & Clinics

Reference 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.

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✓ 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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