TRAPPC9 Gene Mental retardation, autosomal dominant type 13 NGS Genetic Test
Short Name: TRAPPC9 Gene NGS Test
Also known as: TRAPPC9-related intellectual disability, Autosomal dominant mental retardation type 13 genetic testing, TRAPPC9 gene sequencing test
TRAPPC9 Gene Mental retardation, autosomal dominant type 13 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 Reports are issued within 3 to 4 weeks after the sample reaches the laboratory. The exact time may depend on sequence coverage, variant confirmation, and result complexity.. 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 purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the TRAPPC9 gene. It provides molecular confirmation of a clinical suspicion and supports recurrence risk assessment and genetic counseling. The test is intended for individuals with unexplained intellectual disability, developmental delay, or a family history of TRAPPC9-related autosomal dominant mental retardation.
- Test Code
- 4232
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued within 3 to 4 weeks after the sample reaches the laboratory. The exact time may depend on sequence coverage, variant confirmation, and result complexity.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. The patient's clinical history and a genetic counseling session to draw a pedigree chart of affected family members should be completed before blood collection. Written informed consent should be taken by the referring physician.
Method: Venipuncture / FTA card blood spot / DNA sample submission
Laboratory Analysis
A trained phlebotomist will collect a peripheral blood sample into an EDTA tube. Alternatively, one drop of blood can be placed on an FTA card. For extracted DNA submission, the laboratory protocol should be followed.
Report Delivery
The sample should be labeled with the patient's name, ID, and collection date. The sample should be transported to the laboratory in a leak-proof container at ambient temperature or as advised by DNA Labs India.
Timeline: Reports are issued within 3 to 4 weeks after the sample reaches the laboratory. The exact time may depend on sequence coverage, variant confirmation, and result complexity.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the TRAPPC9 gene. It provides molecular confirmation of a clinical suspicion and supports recurrence risk assessment and genetic counseling. The test is intended for individuals with unexplained intellectual disability, developmental delay, or a family history of TRAPPC9-related autosomal dominant mental retardation.
How to Prepare
- Complete the patient's clinical history and genetic counseling form.
- Ensure informed consent is signed before sample collection.
- Use an EDTA vacutainer for blood collection.
- For FTA card, apply one drop of blood to each marked circle and air dry.
- Label the sample clearly with patient identification and date.
- Store and transport the sample according to laboratory instructions.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Detailed pretest genetic counseling and a three-generation family pedigree should be obtained before ordering NGS, because inherited variants may affect multiple family members. The treating physician must interpret the result in the context of clinical findings and segregation studies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted, hemolyzed, or microbially contaminated blood sample
- Insufficient sample quantity or poor DNA quality
- Unlabeled or mislabeled sample
- Requisition form missing clinical history or consent
Understanding Your Results
Positive - Pathogenic or likely pathogenic variant detected
Confirms the molecular diagnosis of TRAPPC9-related disorder. Genetic counseling and family segregation testing are recommended.
Negative - No pathogenic variant detected
Does not rule out a genetic cause. Other genes, deletion/duplication testing, or broader exome analysis may be considered.
Variant of Uncertain Significance (VUS)
The variant is not currently classified as disease-causing. Testing of family members may help reclassify the variant.
Incidental finding
The NGS assay may detect a variant unrelated to the primary clinical question. Such findings need expert and ethical follow-up.
Consult a neurologist, pediatrician, or clinical geneticist if the patient has persistent intellectual disability, developmental delay, speech delay, seizures, behavioral abnormalities, or suspected autism spectrum disorder. Also consult if there is a family history of TRAPPC9-related mental retardation.
Limitations
- ⚠This targeted NGS assay does not detect large structural rearrangements, copy number variants, or deep intronic variants unless specifically reported.
- ⚠A variant of uncertain significance (VUS) is not considered a definitive diagnosis without further segregation or functional studies.
- ⚠A negative result does not exclude non-genetic causes or variants in other genes associated with intellectual disability.
- ⚠This is a single-gene test and does not replace a broader intellectual disability panel or whole exome sequencing.
Risks & Considerations
- ●Minor bruising or bleeding at the venipuncture site
- ●Feeling faint during blood collection
- ●Psychological or emotional impact of receiving genetic findings
- ●Possible anxiety caused by a variant of uncertain significance
Interfering Factors
- ●Insufficient or degraded DNA
- ●Sample mix-up or contamination
- ●Low-level mosaicism
- ●Variants located in regions not covered by NGS, such as deep intronic or large structural variants
- ●Incorrect patient identifiers or incomplete clinical history
Frequently Asked Questions
What is TRAPPC9 gene mental retardation, autosomal dominant type 13?
What are the common symptoms of TRAPPC9-related intellectual disability?
How is TRAPPC9 gene mental retardation diagnosed?
What is NGS genetic testing?
Who should take this TRAPPC9 NGS genetic test?
What is the cost of the TRAPPC9 NGS genetic test at DNA Labs India?
What sample is required for the test?
Is fasting required before the test?
How long does the TRAPPC9 NGS report take?
Is home sample collection available?
Can a negative result completely rule out a genetic cause?
How can I book this TRAPPC9 NGS genetic test?
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