NDST1 Gene Mental retardation, autosomal recessive type 46 NGS Genetic Test
Short Name: NDST1 Gene NGS Test
Also known as: NDST1 AR-46, Mental Retardation Autosomal Recessive Type 46 (NDST1), NDST1 Intellectual Disability
NDST1 Gene Mental retardation, autosomal recessive type 46 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood / Extracted DNA / FTA Card Blood Spot samples. Results in Reports are delivered within 3 to 4 weeks after the sample is received at the laboratory. A pdf report will be shared via email/WhatsApp and can be downloaded from the patient portal.. 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 test is to identify pathogenic variants in the NDST1 gene in individuals with clinical features of mental retardation, delayed development, or intellectual disability. It is intended to confirm a diagnosis of autosomal recessive mental retardation type 46, guide clinical management, and provide recurrence risk information for families.
- Test Code
- 4269
- ICD Code
- F70.9
- Price
- ₹20,000
- Sample Type
- Blood / Extracted DNA / FTA Card Blood Spot
- Result Time
- Reports are delivered within 3 to 4 weeks after the sample is received at the laboratory. A pdf report will be shared via email/WhatsApp and can be downloaded from the patient portal.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is needed. Fasting is not required. A genetic counseling session is recommended to draw a family pedigree and discuss the implications of testing.
Method: Home sample collection or walk-in at lab
Laboratory Analysis
A trained phlebotomist will collect blood (2-5 ml) in an EDTA tube. For home collection, our representative will visit your location. For FTA card, one drop of blood is applied.
Report Delivery
The sample will be transported to the lab under controlled conditions. You can resume normal activities immediately.
Timeline: Reports are delivered within 3 to 4 weeks after the sample is received at the laboratory. A pdf report will be shared via email/WhatsApp and can be downloaded from the patient portal.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the NDST1 gene in individuals with clinical features of mental retardation, delayed development, or intellectual disability. It is intended to confirm a diagnosis of autosomal recessive mental retardation type 46, guide clinical management, and provide recurrence risk information for families.
How to Prepare
- Ensure the blood sample is collected in an EDTA vacutainer.
- For FTA card, apply one drop of blood on the card and air dry.
- If providing extracted DNA, minimum quantity is 2 micrograms and concentration is 50 ng/µl.
- Label the sample with patient name and date of collection.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for NDST1 gene is vital for families with unexplained intellectual disability. Understanding inheritance risks helps in family planning and early intervention."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample
- Hemolyzed sample
- Insufficient sample quantity
- Mislabelled sample
Understanding Your Results
No pathogenic variant detected
Normal; does not support diagnosis of NDST1-related disease.
Pathogenic variant (homozygous or compound heterozygous)
Confirms diagnosis of autosomal recessive mental retardation type 46.
Variant of uncertain significance
Additional analysis and family studies may be required.
Consult a neurologist or medical geneticist for pre-test counseling, result interpretation, and management planning.
Limitations
- ⚠Limited to NDST1 gene; does not evaluate other genes related to intellectual disability
- ⚠May not detect deep intronic variants, large deletions, or duplications unless specifically analyzed
- ⚠Low-level mosaicism may not be detected
Risks & Considerations
- ●The blood draw may cause slight pain, bruising, or minor bleeding.
- ●No significant medical risks are associated with this test.
- ●Psychological impact from test results is possible, hence counseling is advised.
Interfering Factors
- ●Poor DNA quality or quantity
- ●Presence of PCR inhibitors
- ●Sample contamination
- ●Genetic variants of uncertain clinical significance
Compare With Similar Tests
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| Comparison | NDST1 Gene Mental retardation, autosomal recessive type 46 NGS Genetic Test |
Frequently Asked Questions
What is the NDST1 Gene Mental Retardation Autosomal Recessive Type 46 NGS Genetic Test?
What is the cost of the NDST1 gene NGS test?
What sample is required for this test?
Is fasting required before the test?
How long does the test take to report?
Will I receive raw data files with the report?
Does this test detect all genetic causes of mental retardation?
Can this test be performed on children?
Is a genetic counseling session necessary before the test?
What does a positive result mean?
What does a negative result mean?
Is home sample collection available?
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