EFTUD2 Gene Mandibulofacial dysostosis with microcephaly NGS Genetic Test
Short Name: EFTUD2 Gene MFDM NGS Test
Also known as: MFDM Syndrome, EFTUD2-Related Mandibulofacial Dysostosis, Guion-Almeida Mandibulofacial Dysostosis, Mandibulofacial Dysostosis Guion-Almeida Type, MFDM NGS Panel
EFTUD2 Gene Mandibulofacial dysostosis with microcephaly NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing (confirmation), Bioinformatic Analysis, ACMG Variant Classification on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from sample receipt at the laboratory. Rush processing may be available upon request for urgent clinical situations.. 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 primary purpose of the EFTUD2 Gene MFDM NGS Genetic Test is to detect pathogenic mutations in the EFTUD2 gene that cause Mandibulofacial Dysostosis with Microcephaly. This test enables molecular confirmation of a clinical diagnosis, facilitates genetic counselling for affected families, provides recurrence risk estimation for future pregnancies, and supports prenatal or preimplantation genetic diagnosis in families with a known causative variant. The test also helps differentiate MFDM from other craniofacial disorders such as Treacher Collins syndrome, Nager syndrome, and Miller syndrome.
- Test Code
- 1675
- CPT Code
- 81407
- ICD Code
- Q87.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from sample receipt at the laboratory. Rush processing may be available upon request for urgent clinical situations.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Sequencing (confirmation), Bioinformatic Analysis, ACMG Variant Classification
Sample Collection
A Genetic Counselling session is recommended prior to sample collection to draw a pedigree chart of family members affected with EFTUD2 Gene Mandibulofacial Dysostosis with Microcephaly disease. Provide detailed clinical history of the patient including presenting symptoms, family history, and any previous genetic test results. No fasting is required. Ensure informed consent is obtained.
Method: Venipuncture
Laboratory Analysis
A venipuncture blood draw of 3-5 mL into an EDTA (lavender top) tube will be performed by a trained phlebotomist. Alternatively, one drop of blood can be collected on an FTA card, or previously extracted DNA may be submitted. The procedure takes approximately 5-10 minutes.
Report Delivery
Apply pressure to the puncture site with sterile gauze for 3-5 minutes. A small bruise may form at the collection site. Results will be available in 3 to 4 weeks and will be delivered via the online portal, email, or WhatsApp. A follow-up genetic counselling session is recommended to discuss the results.
Timeline: Results are typically available within 3 to 4 weeks from sample receipt at the laboratory. Rush processing may be available upon request for urgent clinical situations.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the EFTUD2 Gene MFDM NGS Genetic Test is to detect pathogenic mutations in the EFTUD2 gene that cause Mandibulofacial Dysostosis with Microcephaly. This test enables molecular confirmation of a clinical diagnosis, facilitates genetic counselling for affected families, provides recurrence risk estimation for future pregnancies, and supports prenatal or preimplantation genetic diagnosis in families with a known causative variant. The test also helps differentiate MFDM from other craniofacial disorders such as Treacher Collins syndrome, Nager syndrome, and Miller syndrome.
How to Prepare
- Ensure the patient (or guardian) has signed informed consent for genetic testing
- Collect 3-5 mL of venous blood in an EDTA (Lavender Top) tube
- Alternatively, one drop of blood on an FTA Card is acceptable
- Previously extracted DNA (minimum 3 µg) may be submitted in a sterile tube
- Label the sample clearly with patient name, date of birth, and sample ID
- Store the blood sample at 2-8°C and transport to the laboratory within 48 hours
- Complete the test requisition form with detailed clinical history and family pedigree information
- Avoid hemolyzing the sample during collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Mandibulofacial Dysostosis with Microcephaly (MFDM) is a rare autosomal dominant disorder caused by mutations in the EFTUD2 gene. Early molecular confirmation through NGS-based testing is critical for accurate genetic counseling, recurrence risk assessment, and multidisciplinary management planning. Families with a suspected diagnosis should undergo comprehensive genetic evaluation including pedigree analysis and targeted gene testing to guide clinical decision-making and long-term care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume (less than 2 mL)
- Samples collected in incorrect tube type (non-EDTA)
- Unlabeled or mislabeled samples
- Samples without completed requisition form or clinical history
- Samples that have been at room temperature for more than 72 hours
- Contaminated or leaked samples
Understanding Your Results
Pathogenic Variant Detected
A known disease-causing mutation in the EFTUD2 gene has been identified, confirming the molecular diagnosis of MFDM. Genetic counselling for the patient and family members is strongly recommended. Recurrence risk for future pregnancies and options for prenatal or preimplantation genetic diagnosis should be discussed.
Likely Pathogenic Variant Detected
A variant with strong evidence of pathogenicity has been identified. This is highly suggestive of MFDM. Clinical correlation and genetic counselling are recommended. The variant may be reclassified as more evidence accumulates.
Variant of Uncertain Significance (VUS)
A genetic variant has been identified, but current evidence is insufficient to classify it as pathogenic or benign. Clinical correlation with the patient's phenotype is essential. Periodic re-evaluation is recommended as new research data becomes available. This result alone should not be used for clinical decision-making.
Likely Benign Variant Detected
A variant has been identified that is unlikely to be associated with MFDM. This result does not confirm or exclude the clinical diagnosis. Clinical correlation and further investigation may be warranted.
No Pathogenic Variant Detected
No disease-causing mutations were identified in the EFTUD2 gene. This result does not completely exclude MFDM or another genetic condition, as mutations in other genes, large structural variants, or variants in non-coding regions may be responsible. Clinical correlation and further genetic evaluation may be considered.
Consult a clinical geneticist or your referring specialist if your child exhibits characteristic facial features such as a small jaw, cleft palate, droopy eyelids, or ear abnormalities combined with microcephaly or developmental delays. Genetic counselling is essential before and after the test. A positive result warrants discussion of management options, recurrence risks, and available support resources. If a VUS is identified, periodic follow-up with a geneticist is recommended for potential reclassification. Families planning future pregnancies should discuss prenatal or preimplantation genetic diagnosis options with their healthcare provider.
Limitations
- ⚠This test analyzes only the EFTUD2 gene and does not screen for mutations in other genes associated with craniofacial disorders
- ⚠Large copy number variations (deletions/duplications) involving the EFTUD2 gene may not be fully detected by standard NGS sequencing alone
- ⚠Variants of Uncertain Significance (VUS) may be identified and require periodic reclassification as new evidence emerges
- ⚠Deep intronic variants, regulatory region mutations, and mitochondrial DNA variants are not covered by this test
- ⚠A negative result does not completely exclude a genetic basis for the patient's condition, as other genes or mechanisms may be involved
- ⚠Mosaicism at low allele frequency may not be reliably detected
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Very rare risk of infection at the venipuncture site
- ●Psychological or emotional impact of receiving genetic test results
- ●Risk of identifying Variants of Uncertain Significance (VUS) which may cause anxiety
- ●Potential implications for insurance and family members (genetic discrimination concerns)
Interfering Factors
- ●Degraded or low-quality DNA may affect sequencing coverage and result accuracy
- ●Hemolyzed or improperly stored blood samples may yield suboptimal DNA extraction
- ●Recent blood transfusion or bone marrow transplant may affect DNA composition
- ●Contamination during sample collection or processing may lead to false results
- ●Presence of pseudogenes or homologous sequences may require additional confirmation
Compare With Similar Tests
| Test | EFTUD2 Gene Mandibulofacial dysostosis with microcephaly NGS Genetic Test | Whole Exome Sequencing (WES) | Chromosomal Microarray Analysis (CMA) | Sanger Sequencing | Craniofacial Gene Panel NGS Test |
|---|---|---|---|---|---|
| Comparison | EFTUD2 Gene Mandibulofacial dysostosis with microcephaly NGS Genetic Test | WES analyzes all ~20,000 genes simultaneously and is suitable when the clinical diagnosis is unclear or multiple genes are suspected. The EFTUD2-targeted NGS test is more cost-effective and faster when MFDM is clinically suspected and EFTUD2 is the primary gene of interest. | CMA detects large chromosomal deletions and duplications but does not identify point mutations or small indels. The EFTUD2 NGS test is superior for detecting single nucleotide variants and small structural variants within the gene. | Sanger sequencing is the traditional method for single-gene analysis and is often used for confirmation of NGS findings. NGS is preferred for initial testing due to higher throughput, lower per-base cost, and the ability to detect a wider range of variant types. | A craniofacial panel tests multiple genes simultaneously (e.g., EFTUD2, TCOF1, SF3B4, POLR1C) and is useful when the differential diagnosis includes several craniofacial syndromes. The EFTUD2-specific test is suitable when MFDM is the primary clinical suspicion. |
Frequently Asked Questions
What is the EFTUD2 Gene MFDM NGS Genetic Test?
What is Mandibulofacial Dysostosis with Microcephaly (MFDM)?
What symptoms may indicate the need for this genetic test?
How is the EFTUD2 Gene MFDM NGS Genetic Test performed?
What sample types are accepted for this test?
How long does it take to get the test results?
What does a positive (pathogenic variant detected) result mean?
Is genetic counselling required before taking this test?
Can this test be used for prenatal diagnosis?
What is the cost of the EFTUD2 Gene MFDM NGS Genetic Test?
Is the EFTUD2 Gene MFDM NGS Genetic Test available across India?
Is the EFTUD2 Gene MFDM NGS Genetic Test covered by insurance?
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