PAK3 Gene Mental retardation, X-linked type 30 NGS Genetic Test
Short Name: PAK3 NGS
Also known as: PAK3 Gene Mutation Test, MRX30 Genetic Test, X-linked intellectual disability type 30 test
PAK3 Gene Mental retardation, X-linked type 30 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing NGS, Sanger confirmation if required 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.. 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 identify pathogenic variants in PAK3 and confirm the molecular diagnosis of X-linked type 30 intellectual disability, enabling appropriate clinical management, family counseling, and carrier status evaluation.
- Test Code
- 4274
- 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.
- Fasting Required
- No
- Method
- Next Generation Sequencing NGS, Sanger confirmation if required
Sample Collection
No fasting is required. A pre-test genetic counseling session is recommended to draw a three-generation pedigree and document affected family members.
Method: Venipuncture or finger-prick blood spot on FTA card
Laboratory Analysis
A blood sample is drawn by venepuncture or a blood spot is placed on an FTA card. The sample must be labelled with the patient's full name and unique identification number.
Report Delivery
There are no specific restrictions after sample collection. The sample should be transported to the laboratory according to the instructions provided.
Timeline: Reports are issued within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic variants in PAK3 and confirm the molecular diagnosis of X-linked type 30 intellectual disability, enabling appropriate clinical management, family counseling, and carrier status evaluation.
How to Prepare
- No fasting required
- EDTA blood sample may be collected
- One drop of blood on FTA card is acceptable
- Extracted DNA may be submitted if available
- Pre-test genetic counseling is advised
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"For an X-linked condition, exploring the maternal family history and discussing carrier status before planning future pregnancies is important. Please consult your treating gynecologist or clinical geneticist for a comprehensive risk assessment."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient sample quantity
- Clotted blood in EDTA tube
- Improperly labelled sample
- Sample received outside acceptable transport time
Understanding Your Results
Pathogenic variant detected
Confirms the molecular diagnosis of PAK3-associated X-linked type 30 intellectual disability. Clinical correlation and genetic counseling are recommended.
No pathogenic variant detected
No disease-causing variant was identified in PAK3. Other genetic or non-genetic causes of intellectual disability should be considered.
Variant of uncertain significance VUS
A DNA variant was found but its clinical significance is not yet clear. Additional family segregation studies and further clinical evaluation may be needed.
If the test result identifies a pathogenic or likely pathogenic variant, if a variant of uncertain significance is reported, or if there is persistent diagnostic uncertainty in a patient with developmental delay, intellectual disability, or a family history of X-linked intellectual disability.
Limitations
- ⚠This test analyzes the PAK3 gene only and does not cover all genetic causes of intellectual disability.
- ⚠Deep intronic, promoter, and large structural variants in PAK3 may not be detected by standard NGS unless specifically requested.
- ⚠A variant of uncertain significance may require additional family segregation studies.
- ⚠X-inactivation in females can influence clinical expression and may complicate phenotype-genotype correlation.
- ⚠A negative PAK3 result does not exclude other genetic or non-genetic causes of intellectual disability.
Risks & Considerations
- ●No significant physical risk is associated with blood collection
- ●Mild bruising or hematoma may occur at the venepuncture site
- ●Psychological impact of a genetic diagnosis and the need for genetic counseling
Interfering Factors
- ●Low DNA quality or quantity
- ●Maternal cell contamination
- ●Poor NGS library coverage
- ●Incomplete or inaccurate family history
- ●Presence of synonymous or benign variants of no clinical significance
Compare With Similar Tests
| Test | PAK3 Gene Mental retardation, X-linked type 30 NGS Genetic Test | ||
|---|---|---|---|
| Comparison | PAK3 Gene Mental retardation, X-linked type 30 NGS Genetic Test |
Frequently Asked Questions
What is the PAK3 gene?
What is X-linked type 30 mental retardation?
Who should take this PAK3 NGS genetic test?
How is the PAK3 NGS test performed?
Do I need to fast before the test?
How much does the PAK3 gene NGS test cost at DNA Labs India?
When will I get the reports?
Is this test covered by insurance?
Can a female be affected by X-linked type 30 intellectual disability?
Does a negative PAK3 test rule out intellectual disability?
What is a variant of uncertain significance?
Will I receive raw data files with the test report?
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