CDT1 Gene Meier-Gorlin syndrome type 4 NGS Genetic Test
Short Name: CDT1 MGS4 NGS
Also known as: CDT1 Gene Sequencing, Meier-Gorlin Syndrome Type 4 Genetic Test, CDT1 NGS Panel
CDT1 Gene Meier-Gorlin syndrome type 4 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.
🩺 Medically Reviewed By
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 Meier-Gorlin syndrome type 4 by identifying pathogenic mutations in the CDT1 gene. It aids in differentiating MGS from other skeletal dysplasias and growth disorders, enabling appropriate medical management and genetic counseling for affected families.
- Test Code
- 5838
- 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)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended prior to testing to discuss the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using sterile techniques. For FTA card, a drop of blood is placed on the card and allowed to dry.
Report Delivery
No specific aftercare is needed. The sample is transported to the laboratory at ambient temperature.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of Meier-Gorlin syndrome type 4 by identifying pathogenic mutations in the CDT1 gene. It aids in differentiating MGS from other skeletal dysplasias and growth disorders, enabling appropriate medical management and genetic counseling for affected families.
How to Prepare
- Ensure the patient's identity is verified.
- Use EDTA vacutainer for blood collection.
- If using FTA card, apply one drop of blood and let it dry completely.
- Label the sample with patient details and date of collection.
- Transport the sample to the lab within 24-48 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Meier-Gorlin syndrome type 4 is a rare autosomal recessive disorder. Genetic confirmation is essential for accurate management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged delay
Understanding Your Results
Positive
Confirms diagnosis of Meier-Gorlin syndrome type 4. Genetic counseling is recommended for family members.
Negative
No mutation found in CDT1 gene. Other genetic causes may be considered.
Variant of Uncertain Significance
A genetic variant was found but its clinical significance is unknown. Further testing may be needed.
Consult a geneticist or pediatrician if your child shows symptoms such as short stature, microcephaly, or skeletal abnormalities. Early genetic testing can provide a definitive diagnosis and guide management.
Limitations
- ⚠This test detects mutations only in the CDT1 gene; mutations in other genes causing MGS will not be identified.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variants of uncertain significance may require further family studies.
- ⚠Test does not assess non-genetic causes of short stature.
Risks & Considerations
- ●Minimal risk of bleeding or bruising at the puncture site
- ●Rare risk of infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Contamination of sample
- ●Insufficient DNA quantity
- ●Presence of maternal cell contamination
- ●Genetic variants of unknown significance
Compare With Similar Tests
| Test | CDT1 Gene Meier-Gorlin syndrome type 4 NGS Genetic Test | Whole Exome Sequencing | Chromosomal Microarray | Targeted MGS Panel |
|---|---|---|---|---|
| Comparison | CDT1 Gene Meier-Gorlin syndrome type 4 NGS Genetic Test |
Frequently Asked Questions
What is Meier-Gorlin syndrome type 4?
How is the CDT1 gene test performed?
What is the cost of the test?
How long does it take to get results?
Is fasting required before the test?
What sample types are accepted?
Can this test be done for children?
What does a positive result mean?
Are there any risks associated with the test?
Is genetic counseling included?
Can this test detect all types of Meier-Gorlin syndrome?
How can I book this test?
Related Tests
Amino Acids Qualitative Two Dimensional Urine Test
₹1,439Succinylacetone Urine Test
₹5,000RXFP2 Gene Cryptorchidism NGS Genetic Test
₹20,000EFNB1 Gene Craniofrontonasal syndrome NGS Genetic Test
₹20,000MNX1 Gene Currarino syndrome NGS Genetic Test
₹20,000FGFR1 Gene Craniosynostosis, FGFR1 related NGS Genetic Test
₹20,000Reference 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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ 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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.