PRSS12 Gene Mental retardation, autosomal recessive type 1 NGS Genetic Test
Short Name: PRSS12 NGS Genetic Test
Also known as: Neurotrypsin Gene Test, MRT1 Genetic Test, PRSS12 Mutation Analysis
PRSS12 Gene Mental retardation, autosomal recessive type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing for variant confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are delivered in 3 to 4 weeks (21-28 days) after the sample is received at the laboratory.. 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
To detect disease-causing variants in the PRSS12 gene that are associated with autosomal recessive type 1 intellectual disability. This test aids in confirming a clinical diagnosis, carrier detection, and genetic counselling.
- Test Code
- 4254
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered in 3 to 4 weeks (21-28 days) after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Sequencing for variant confirmation
Sample Collection
No special preparation required. Please provide a detailed clinical history and, if available, any previous genetic test reports.
Method: Venepuncture or FTA card spot collection
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. If an FTA card is used, a few drops of blood will be spotted on the card.
Report Delivery
No restrictions. You can resume normal activities.
Timeline: Reports are delivered in 3 to 4 weeks (21-28 days) after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To detect disease-causing variants in the PRSS12 gene that are associated with autosomal recessive type 1 intellectual disability. This test aids in confirming a clinical diagnosis, carrier detection, and genetic counselling.
How to Prepare
- Please carry a valid ID and the signed requisition form.
- Inform the lab if you have had a blood transfusion in the last 72 hours.
- For FTA card collection, ensure the spots are completely dry before placing the card in the protective sleeve.
- For home collection, the phlebotomist will bring all necessary equipment.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counselling is essential for families with a history of unexplained intellectual disability. This test helps identify the underlying genetic cause and enables recurrence risk assessment."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed or clotted blood sample
- Inadequate sample volume
- Mislabelled or unlabelled sample
- Sample leaking in transit
Understanding Your Results
Pathogenic or Likely Pathogenic Variant Detected
Establishes a molecular diagnosis of PRSS12-related intellectual disability if the variant is homozygous or compound heterozygous. Heterozygous carriers are unaffected.
Variant of Uncertain Significance (VUS)
The clinical impact is unknown. Additional family testing or functional studies may be needed to clarify its role.
No Pathogenic Variant Detected
A diagnosis of PRSS12 gene mutation is not established. Other genetic or non-genetic causes of intellectual disability should be explored.
If the test result identifies a pathogenic variant, consult a clinical geneticist for genetic counselling and management. If the result is negative but clinical suspicion remains, further genetic testing may be recommended.
Limitations
- ⚠This NGS assay detects single nucleotide variants and small insertions/deletions in the coding region and splice junctions. It may not detect large deletions/duplications, deep intronic variants, or regulatory mutations.
- ⚠Absence of a pathogenic variant in the PRSS12 gene does not exclude all genetic causes of intellectual disability.
- ⚠Variant of Uncertain Significance (VUS) may require further familial segregation studies.
- ⚠The test is not intended for prenatal diagnosis unless specifically requested with appropriate counselling.
Risks & Considerations
- ●Slight pain, bruising, or bleeding at the venepuncture site
- ●Rare risk of infection, minimized with sterile techniques
Interfering Factors
- ●Low-quality or degraded DNA
- ●Low DNA concentration (<10 ng/µl)
- ●Presence of contaminants or haemoglobin remnants
- ●Incorrect sample labelling
- ●Recent blood transfusion within 72 hours may cause mixed DNA
Compare With Similar Tests
| Test | PRSS12 Gene Mental retardation, autosomal recessive type 1 NGS Genetic Test | PRSS12 Gene NGS Genetic Test | Whole Exome Sequencing | Chromosomal Microarray Analysis |
|---|---|---|---|---|
| Comparison | PRSS12 Gene Mental retardation, autosomal recessive type 1 NGS Genetic Test |
Frequently Asked Questions
What is PRSS12 gene mental retardation?
How is PRSS12 gene mental retardation inherited?
What are the symptoms of PRSS12 gene mental retardation?
Who should consider this genetic test?
What type of sample is required for the PRSS12 NGS genetic test?
Do I need to fast before the test?
How long does it take to get the test report?
What is the cost of the PRSS12 gene NGS genetic test?
Why is genetic counselling important for this test?
Can this test detect all genetic causes of intellectual disability?
What does a VUS (Variant of Uncertain Significance) result mean?
Is the PRSS12 test covered by insurance or government schemes?
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