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RUNX2 Gene Cleidocranial dysplasia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

RUNX2 Gene Cleidocranial dysplasia NGS Genetic Test

Short Name: RUNX2 Gene NGS Test

Also known as: RUNX2 Gene Sequencing Test, Cleidocranial Dysplasia DNA Test, CCD Genetic Test, RUNX2 Mutation Analysis, RUNX2 NGS Panel

RUNX2 Gene Cleidocranial dysplasia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Bioinformatic Analysis, Sanger Confirmation (if required) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at laboratory. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)All Ages🏠 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 RUNX2 Gene Cleidocranial Dysplasia NGS Genetic Test is performed to confirm a clinical diagnosis of Cleidocranial dysplasia, identify the specific RUNX2 mutation responsible for the condition, enable carrier testing in family members, support prenatal and preconception genetic counseling, guide clinical management and multidisciplinary care planning, and provide recurrence risk assessment for future pregnancies.

Test Code
2377
CPT Code
81479
ICD Code
Q74.0
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 laboratory
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Bioinformatic Analysis, Sanger Confirmation (if required)
Step 1

Sample Collection

No special preparation or fasting is required. Genetic counseling session is recommended prior to sample collection to document family history and draw a pedigree chart of affected family members.

Method: Venipuncture or FTA Card finger-prick

Step 2

Laboratory Analysis

A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA vacutainer. Alternatively, a finger-prick blood sample can be applied to an FTA card. The procedure takes approximately 5 minutes.

Step 3

Report Delivery

The sample is labeled, stored at ambient room temperature, and transported to the DNA Labs India molecular genetics laboratory. Mild bruising at the venipuncture site is normal and resolves within 1-2 days.

Timeline: 3 to 4 Weeks from sample receipt at laboratory

Patient Instructions

1
Before the Test:A genetic counseling session is recommended to document the patient's clinical history and draw a detailed pedigree chart of family members affected with Cleidocranial dysplasia or related skeletal conditions. No fasting is required. Valid physician referral and informed consent are necessary.
2
During the Test:A blood sample (3-5 mL in EDTA tube) or FTA card blood drop is collected by a trained phlebotomist. The sample is then transported under ambient conditions to DNA Labs India's NGS laboratory for DNA extraction, library preparation, sequencing, and bioinformatic analysis of the RUNX2 gene.
3
After the Test:Results are available within 3 to 4 weeks through the online portal, email, or WhatsApp. A genetic counseling session is recommended after receiving results to discuss findings, implications, recurrence risks, and management options. Raw data, FASTQ files, and VCF files are provided along with the clinical report.

About This Test

Who Should Get This Test

The RUNX2 Gene Cleidocranial Dysplasia NGS Genetic Test is performed to confirm a clinical diagnosis of Cleidocranial dysplasia, identify the specific RUNX2 mutation responsible for the condition, enable carrier testing in family members, support prenatal and preconception genetic counseling, guide clinical management and multidisciplinary care planning, and provide recurrence risk assessment for future pregnancies.

How to Prepare

  • Genetic counseling session to document clinical history and family pedigree is recommended before sample collection
  • No fasting required prior to sample collection
  • Bring valid photo identification and physician referral or prescription
  • Blood sample will be collected in an EDTA vacutainer (lavender top) or applied to FTA card
  • Sample can be collected at any DNA Labs India collection center or via free home collection service
  • Inform the phlebotomist of any recent blood transfusions or bone marrow transplant

Doctor's Notes

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

"Cleidocranial dysplasia is an autosomal dominant condition caused by RUNX2 gene mutations. Early genetic confirmation through NGS testing is essential for families planning pregnancies, as it enables accurate risk assessment for offspring, guides prenatal counseling, and helps coordinate multidisciplinary care involving pediatricians, orthodontists, and orthopedic specialists. Couples with a family history of CCD should consider preconception genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL whole blood
ContainerEDTA Vacutainer (Lavender Top) or FTA Card
Collection MethodVenipuncture or FTA Card finger-prick

Sample Stability

Whole blood in EDTA tube: stable up to 72 hours at ambient room temperature (15-25°C)
FTA Card: stable for extended periods at room temperature when stored properly
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Clotted blood sample in EDTA tube
  • Insufficient sample volume (less than 1 mL)
  • Heavily hemolyzed or degraded sample
  • Unlabeled or mislabeled sample
  • Sample collected without proper consent documentation

Understanding Your Results

The RUNX2 Gene Cleidocranial Dysplasia NGS Genetic Test reports the presence or absence of pathogenic variants in the RUNX2 gene. Results should be interpreted by a qualified clinical geneticist in conjunction with clinical findings, family history, and imaging studies.
📊

Pathogenic Variant Detected

A disease-causing mutation in the RUNX2 gene has been identified. This confirms the molecular diagnosis of Cleidocranial dysplasia. Genetic counseling for the patient and family members is strongly recommended to discuss inheritance pattern, recurrence risk, and management options.

📊

Likely Pathogenic Variant Detected

A variant strongly suspected to be disease-causing has been identified based on available evidence. Clinical correlation is advised, and family segregation analysis may help confirm pathogenicity.

📊

Variant of Uncertain Significance (VUS)

A genetic variant in the RUNX2 gene has been detected, but current evidence is insufficient to classify it as pathogenic or benign. Clinical correlation, family segregation studies, and periodic re-evaluation are recommended as new evidence may become available.

📊

No Pathogenic Variant Detected

No pathogenic or likely pathogenic variants were identified in the RUNX2 gene coding region. This does not fully exclude Cleidocranial dysplasia if clinical suspicion is high, as mutations in non-coding regions or other genetic mechanisms may be involved. Clinical correlation and further evaluation are advised.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or your referring physician if you or your child presents with clinical features of Cleidocranial dysplasia including wide fontanelles, absent or underdeveloped collarbones, dental abnormalities, or short stature. Seek genetic counseling if there is a family history of CCD, if you are planning a pregnancy and have a confirmed RUNX2 mutation, or if the test result returns a Variant of Uncertain Significance requiring further interpretation.

Limitations

  • ⚠This test does not detect variants in deep intronic or regulatory regions outside the targeted sequencing range
  • ⚠Variants of uncertain significance (VUS) may be identified that cannot definitively confirm or exclude CCD
  • ⚠Mosaicism below the detection threshold of NGS may not be identified
  • ⚠This test does not replace clinical evaluation, imaging studies, or genetic counseling

Risks & Considerations

  • ●Mild pain or bruising at the blood collection site
  • ●Minimal risk of infection at venipuncture site
  • ●Emotional or psychological impact of genetic test results
  • ●Risk of identifying variants of uncertain significance causing anxiety

Interfering Factors

  • ●Degraded or insufficient DNA quality may affect sequencing accuracy
  • ●Blood samples stored improperly or with hemolysis may yield suboptimal results
  • ●Recent blood transfusions within the past 4 weeks may affect results
  • ●Contamination during sample collection or transport

Compare With Similar Tests

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Frequently Asked Questions

What is Cleidocranial dysplasia and what causes it?
Cleidocranial dysplasia (CCD) is a rare autosomal dominant genetic disorder caused by mutations in the RUNX2 gene on chromosome 6p21.1. The RUNX2 gene encodes a transcription factor critical for osteoblast differentiation and bone formation. Mutations disrupt normal skeletal development, leading to characteristic features such as absent or underdeveloped clavicles, wide cranial fontanelles, dental abnormalities, and short stature.
Who should consider getting the RUNX2 Gene NGS Genetic Test?
This test is recommended for individuals with clinical features suggestive of Cleidocranial dysplasia, families with a history of CCD or confirmed RUNX2 mutations, individuals with unexplained dental anomalies including supernumerary teeth or delayed tooth eruption, and couples planning a pregnancy who have a family history of the condition.
What sample is required for the RUNX2 Gene NGS Genetic Test?
The test requires either a 3-5 mL blood sample collected in an EDTA vacutainer tube, extracted DNA, or one drop of blood on an FTA card. Sample collection is available at DNA Labs India collection centers or through free home sample collection service.
How long does it take to get the results of the RUNX2 Gene NGS Genetic Test?
Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. The report is delivered via online portal, email, or WhatsApp.
What is the cost of the RUNX2 Gene Cleidocranial Dysplasia NGS Genetic Test?
The cost of the RUNX2 Gene Cleidocranial Dysplasia NGS Genetic Test at DNA Labs India is INR 20,000. This price includes sample collection, NGS laboratory testing, genetic analysis and interpretation, clinical reporting, and provision of raw data files (FASTQ and VCF).
What does the RUNX2 Gene NGS Genetic Test analyze?
The test analyzes the entire coding region of the RUNX2 gene, including exon-intron boundaries and flanking regulatory regions. It detects single nucleotide variants (SNVs), small insertions and deletions (indels), copy number variations (CNVs), and structural rearrangements using Next-Generation Sequencing technology.
Is Cleidocranial dysplasia inherited?
Yes, Cleidocranial dysplasia follows an autosomal dominant inheritance pattern. This means a single copy of the mutated RUNX2 gene from one affected parent is sufficient to cause the condition. Each child of an affected parent has a 50% chance of inheriting the mutation. Approximately 60% of cases are inherited, while 40% arise from de novo mutations.
Can this test be used for prenatal diagnosis?
Yes, if a pathogenic RUNX2 mutation has been identified in an affected family member, targeted prenatal testing can be performed on fetal samples (via chorionic villus sampling or amniocentesis) to determine whether the fetus has inherited the mutation. Genetic counseling is essential before and after prenatal testing.
What if my test result shows a Variant of Uncertain Significance (VUS)?
A VUS means a genetic change in the RUNX2 gene has been detected, but current scientific evidence is insufficient to classify it as definitively pathogenic or benign. Your geneticist may recommend family segregation studies, periodic re-evaluation as new evidence emerges, and correlation with clinical findings and imaging studies.
Does DNA Labs India provide raw genetic data files?
Yes. DNA Labs India is committed to transparency and provides raw data files including FASTQ and VCF files along with the conclusive clinical test report. This allows patients and their physicians to seek independent analysis or reanalysis of the genetic data if needed.
Is home sample collection available for this genetic test?
Yes. DNA Labs India offers free home sample collection for online bookings of the RUNX2 Gene Cleidocranial Dysplasia NGS Genetic Test. This service is available across major cities in India including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, and many more.
Is fasting required before the RUNX2 Gene NGS Genetic Test?
No, fasting is not required for this test. No special dietary or physical preparation is needed before sample collection. However, a pre-test genetic counseling session is recommended to document clinical history and family pedigree information.
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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