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RBBP8 Gene Jawad syndrome NGS Genetic Test

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RBBP8 Gene Jawad syndrome NGS Genetic Test

Short Name: RBBP8 NGS

Also known as: RBBP8 Gene Mutation Analysis, Jawad Syndrome Genetic Test, RBBP8 Sequencing

RBBP8 Gene Jawad syndrome 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 from sample receipt at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to confirm a clinical diagnosis of Jawad Syndrome by identifying pathogenic mutations in the RBBP8 gene. It also aids in carrier detection for at-risk family members, providing crucial information for genetic counseling and reproductive decision-making. Additionally, the test can help differentiate Jawad Syndrome from other overlapping conditions with similar phenotypes.

Test Code
5802
CPT Code
81407
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 from sample receipt at the laboratory.
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 prior to testing.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

Blood sample is collected by venipuncture or a fingerstick for FTA card. The procedure is quick and minimally invasive.

Step 3

Report Delivery

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

Timeline: 3 to 4 weeks from sample receipt at the laboratory.

Patient Instructions

1
Before the Test:A genetic counseling session is recommended to discuss the implications of testing, including potential results and their impact on family members.
2
During the Test:The test involves a simple blood draw or FTA card sample collection. No special measures are required.
3
After the Test:Results are typically available in 3-4 weeks. A genetic counselor will explain the results and discuss next steps.

About This Test

Who Should Get This Test

The purpose of this test is to confirm a clinical diagnosis of Jawad Syndrome by identifying pathogenic mutations in the RBBP8 gene. It also aids in carrier detection for at-risk family members, providing crucial information for genetic counseling and reproductive decision-making. Additionally, the test can help differentiate Jawad Syndrome from other overlapping conditions with similar phenotypes.

How to Prepare

  • Ensure the patient's identity is verified.
  • Use EDTA tube for blood collection.
  • For FTA card, apply one drop of blood to the designated area.
  • Label the sample with patient details and date.
  • Transport the sample at ambient temperature.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for Jawad syndrome is crucial for accurate diagnosis and family planning. The NGS method provides high sensitivity for detecting RBBP8 mutations."

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 Fingerstick

Sample Stability

Blood in EDTA: 7 days at 2-8°C
FTA card: Stable for months at room temperature
Extracted DNA: Stable for years at -20°C
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Insufficient sample volume
  • Improper labeling
  • Sample received after prolonged transit time without proper storage

Understanding Your Results

The test report will indicate whether any pathogenic or likely pathogenic variants were identified in the RBBP8 gene. If a variant is found, its clinical significance will be explained. A negative result reduces the likelihood of Jawad Syndrome but does not exclude it entirely.
📊

Positive (Pathogenic variant detected)

Confirms the diagnosis of Jawad Syndrome. Genetic counseling is recommended for the family.

📊

Negative (No pathogenic variant detected)

No mutation found in RBBP8. However, clinical correlation is advised; other genetic causes may be considered.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found but its clinical significance is unclear. Further testing of family members may help clarify.

⚠️ When to Consult a Doctor:

If you or your child exhibit symptoms such as short stature, joint stiffness, facial abnormalities, or developmental delay, consult a clinical geneticist or pediatrician for evaluation and possible genetic testing.

Limitations

  • ⚠This test does not detect all possible mutations; large rearrangements may not be identified.
  • ⚠Variants of uncertain significance (VUS) may require further family studies.
  • ⚠Negative result does not completely rule out the condition 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 genetic results
  • ●Potential for uncertain results (VUS)

Interfering Factors

  • ●Contamination of sample with foreign DNA
  • ●Insufficient DNA quantity or quality
  • ●Presence of large deletions/duplications not detected by standard NGS (requires additional testing)
  • ●Mosaic mutations may be missed

Compare With Similar Tests

TestRBBP8 Gene Jawad syndrome NGS Genetic TestWhole Exome SequencingTargeted RBBP8 Sanger Sequencing
ComparisonRBBP8 Gene Jawad syndrome NGS Genetic Test

Frequently Asked Questions

What is Jawad Syndrome?
Jawad Syndrome is a rare genetic disorder caused by mutations in the RBBP8 gene, characterized by short stature, joint stiffness, facial abnormalities, and developmental delay.
How is Jawad Syndrome diagnosed?
Diagnosis is confirmed through genetic testing that identifies mutations in the RBBP8 gene. Clinical evaluation and family history are also important.
What is the cost of the RBBP8 gene NGS test at DNA Labs India?
The test costs INR 20000, which includes genetic counseling, NGS analysis, and a comprehensive report.
What sample is required for the test?
A blood sample (2-3 ml in EDTA tube) or one drop of blood on an FTA card is required. Extracted DNA is also acceptable.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after the sample is received at the laboratory.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Can this test detect carriers of the RBBP8 mutation?
Yes, the test can identify carriers who have one copy of the mutated gene, which is valuable for family planning.
What is the difference between NGS and Sanger sequencing for this test?
NGS analyzes the entire gene in a single run, while Sanger sequencing is targeted to specific regions. NGS is more comprehensive and can detect variants across the gene.
Will I receive raw data files?
Yes, DNA Labs India provides raw data files (FASTQ, VCF) along with the clinical report for transparency.
Is genetic counseling included in the test?
Yes, a genetic counseling session is included to draw a pedigree chart and discuss the implications of the test.
Can the test be done on a saliva sample?
The standard sample is blood or FTA card, but saliva may be accepted in certain cases. Please contact the lab for confirmation.
What does a negative result mean?
A negative result indicates no pathogenic mutation was found in the RBBP8 gene. However, it does not completely rule out Jawad Syndrome if clinical suspicion is high; other genetic causes may be considered.
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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