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PIGW Gene Hyperphosphatasia with mental retardation syndrome type 5 NGS Genetic Test

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PIGW Gene Hyperphosphatasia with mental retardation syndrome type 5 NGS Genetic Test

Short Name: PIGW NGS Genetic Test

Also known as: PIGW Gene Mutation Test, MRT5 Genetic Test, GPI Anchor Deficiency Test

PIGW Gene Hyperphosphatasia with mental retardation syndrome type 5 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 typically delivered within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this NGS genetic test is to identify mutations in the PIGW gene that cause Hyperphosphatasia with Mental Retardation Syndrome Type 5. It aids in confirming a clinical diagnosis, differentiating from other genetic disorders with similar symptoms, and providing information for recurrence risk assessment in families.

Test Code
5793
CPT Code
81407
ICD Code
Q87.8
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically delivered within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. However, a genetic counseling session is recommended to discuss the implications of testing. Please provide clinical history and family pedigree.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

Blood sample will be collected by a trained phlebotomist. For FTA card, a fingerstick blood drop is applied to the card.

Step 3

Report Delivery

No specific aftercare required. You can resume normal activities immediately.

Timeline: Reports are typically delivered within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the benefits, risks, and implications of testing. Provide a detailed family history and clinical symptoms.
2
During the Test:The test involves a simple blood draw or fingerstick. No pain or discomfort beyond the needle prick.
3
After the Test:You will receive the report in 3-4 weeks. Discuss the results with your genetic counselor or physician.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify mutations in the PIGW gene that cause Hyperphosphatasia with Mental Retardation Syndrome Type 5. It aids in confirming a clinical diagnosis, differentiating from other genetic disorders with similar symptoms, and providing information for recurrence risk assessment in families.

How to Prepare

  • Ensure the sample is labeled correctly with patient details.
  • For blood sample, use EDTA tube and mix gently.
  • For FTA card, allow the blood spot to air dry completely before packaging.
  • Transport samples at ambient temperature.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for PIGW mutations is crucial for accurate diagnosis and management of MRT5. Early detection can guide therapeutic interventions and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 drop on FTA card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Blood in EDTA: 7 days at 2-8°C, 24 hours at room temperature
Extracted DNA: 1 year at -20°C
FTA card: stable for years at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled sample
  • Sample received after prolonged transit without proper storage

Understanding Your Results

The interpretation of the PIGW gene NGS test results should be performed by a qualified geneticist. Results are reported as positive, negative, or variant of uncertain significance (VUS). A positive result confirms the diagnosis of MRT5, while a negative result does not completely rule out the condition if clinical suspicion is high.
📊

Positive (Pathogenic variant)

Confirms diagnosis of MRT5. Genetic counseling and family screening recommended.

📊

Negative (No pathogenic variant)

No mutation found in PIGW gene. Consider other genetic causes if symptoms persist.

📊

Variant of Uncertain Significance (VUS)

A variant was found but its clinical significance is unknown. Further testing of family members may help clarify.

⚠️ When to Consult a Doctor:

If your child has unexplained intellectual disability, seizures, or developmental delays, consult a pediatric neurologist or clinical geneticist. Genetic testing can provide a definitive diagnosis and guide management.

Limitations

  • ⚠This test detects mutations in the PIGW gene only; other genes causing similar phenotypes are not analyzed.
  • ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
  • ⚠Variant of uncertain significance (VUS) may be reported; further family studies may be needed.
  • ⚠Test does not assess the functional impact of variants.

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of receiving a genetic diagnosis
  • ●Potential for finding variants of uncertain significance

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Insufficient sample quantity
  • ●Presence of maternal cell contamination in prenatal samples
  • ●Recent blood transfusion (within 2 weeks) may dilute DNA

Compare With Similar Tests

TestPIGW Gene Hyperphosphatasia with mental retardation syndrome type 5 NGS Genetic TestWhole Exome Sequencing (WES)Chromosomal Microarray (CMA)
ComparisonPIGW Gene Hyperphosphatasia with mental retardation syndrome type 5 NGS Genetic Test

Frequently Asked Questions

What is the cost of the PIGW gene NGS genetic test at DNA Labs India?
The test costs INR 20,000, which includes sample collection, processing, and analysis. Home sample collection is free for online bookings.
What sample is required for the PIGW gene test?
The sample can be blood (2-3 ml in EDTA tube), extracted DNA, or one drop of blood on an FTA card.
How long does it take to get the results?
The turnaround time is 3 to 4 weeks from the date of sample receipt.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What is Hyperphosphatasia with Mental Retardation Syndrome Type 5?
It is a rare genetic disorder caused by mutations in the PIGW gene, leading to intellectual disability, seizures, and distinctive facial features.
How is the PIGW gene test performed?
The test uses Next-Generation Sequencing (NGS) technology to analyze the entire PIGW gene for mutations.
Can this test be done on a newborn?
Yes, the test can be performed on individuals of any age, including newborns, as long as a blood or DNA sample is available.
Is genetic counseling recommended before the test?
Yes, a genetic counseling session is recommended to draw a pedigree chart and discuss the implications of testing.
Does insurance cover the cost of this test?
Insurance coverage varies. It is advisable to check with your insurance provider. DNA Labs India does not directly bill insurance.
What does a positive result mean?
A positive result indicates the presence of a pathogenic mutation in the PIGW gene, confirming the diagnosis of MRT5.
Are there any risks associated with the test?
The test is low-risk, with minimal discomfort from blood collection. There may be psychological implications of the results.
In which cities is home sample collection available?
Home sample collection is available across major cities in India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, and many more.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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