INPP5E Gene Mental retardation, truncal obesity, retinal dystrophy, and micropenis NGS Genetic Test
Short Name: INPP5E NGS Panel
Also known as: INPP5E Gene Sequencing, INPP5E Mutation Analysis, INPP5E Next-Generation Sequencing
INPP5E Gene Mental retardation, truncal obesity, retinal dystrophy, and micropenis 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 delivered within 3 to 4 weeks after sample receipt.. 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 identify pathogenic mutations in the INPP5E gene that may be responsible for clinical features such as intellectual disability, truncal obesity, retinal dystrophy, and micropenis. It aids in confirming a clinical diagnosis, differentiating from other genetic conditions, and providing information for recurrence risk assessment.
- Test Code
- 5843
- CPT Code
- 81407
- ICD Code
- Q87.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before 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 technique. For FTA card, a drop of blood is applied to the card and allowed to dry.
Report Delivery
No specific aftercare is needed. The sample is transported to the laboratory at ambient temperature.
Timeline: Reports are delivered within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the INPP5E gene that may be responsible for clinical features such as intellectual disability, truncal obesity, retinal dystrophy, and micropenis. It aids in confirming a clinical diagnosis, differentiating from other genetic conditions, and providing information for recurrence risk assessment.
How to Prepare
- For blood: Use EDTA vacutainer, mix gently to prevent clotting.
- For FTA card: Apply one drop of blood onto the card, air dry for 30 minutes.
- Label the sample with patient name, date, and unique ID.
- Transport at room temperature within 24 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for INPP5E mutations is crucial for accurate diagnosis and management of rare syndromic conditions. Early identification can guide surveillance and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms the diagnosis of INPP5E-related disorder. Genetic counseling is recommended for family planning.
Action: Clinical management and surveillance as per phenotype.
Variant of uncertain significance (VUS)
The variant is not clearly associated with disease. Further testing of family members may help clarify.
Action: Consider segregation analysis and additional functional studies.
No pathogenic variant detected
No disease-causing variant found in INPP5E. Other genetic causes may be considered.
Action: Consider broader genetic testing or re-evaluation of clinical diagnosis.
If you or your child has symptoms such as intellectual disability, obesity, retinal dystrophy, or micropenis, consult a clinical geneticist or pediatrician for evaluation and possible genetic testing.
Limitations
- ⚠This test does not detect large deletions/duplications, deep intronic variants, or variants in regulatory regions.
- ⚠Variant of uncertain significance (VUS) may be reported; further family studies may be needed.
- ⚠Negative result does not rule out other genetic causes of the phenotype.
Risks & Considerations
- ●No significant physical risks associated with blood draw
- ●Psychological impact of receiving genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Presence of maternal cell contamination in prenatal samples
- ●Incomplete coverage of certain regions due to technical limitations
Compare With Similar Tests
| Test | INPP5E Gene Mental retardation, truncal obesity, retinal dystrophy, and micropenis NGS Genetic Test | Whole Exome Sequencing (WES) | Targeted Gene Panel (Ciliopathy Panel) | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | INPP5E Gene Mental retardation, truncal obesity, retinal dystrophy, and micropenis NGS Genetic Test | WES covers all coding regions of all genes, while this test focuses only on INPP5E. WES may identify variants in other genes but is more expensive and time-consuming. | A panel includes multiple ciliopathy genes, including INPP5E. It may be more comprehensive but costlier than single-gene testing. | Sanger sequencing is used for confirmation of specific variants found by NGS. It is not suitable for full gene sequencing due to cost and time. |
Frequently Asked Questions
What is the INPP5E gene?
What are the symptoms of INPP5E gene mutations?
How is the INPP5E gene test performed?
What is the cost of the INPP5E gene test in India?
How long does it take to get results?
Is fasting required for this test?
What sample is needed?
Will I get raw data files?
Can this test be done for children?
What does a negative result mean?
Is genetic counseling included?
How do I book this test?
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₹20,000Reference Laboratory Services
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