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PIGT Gene Multiple congenital anomalies-hypotonia-seizures syndrome type 3 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PIGT Gene Multiple congenital anomalies-hypotonia-seizures syndrome type 3 NGS Genetic Test

Short Name: PIGT Gene MCAHS3 Test

Also known as: PIGT Gene Sequencing, MCAHS3 Genetic Test, GPI Anchor Deficiency Panel, PIGT-Related Disorders Testing

PIGT Gene Multiple congenital anomalies-hypotonia-seizures syndrome type 3 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 3-4 weeks from the date the sample is received at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Age Groups🏠 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 pathogenic mutations in the PIGT gene that cause Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3 (MCAHS3). It helps confirm clinical diagnosis, facilitate early intervention, estimate recurrence risk, and support family planning decisions.

Test Code
4339
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks from the date the sample is received at the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation such as fasting is required. A genetic counselling session will be provided before sample collection. Please bring all relevant clinical records and imaging findings, if available.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

The sample is collected as a small blood draw (3-5 ml in an EDTA tube) or as one spot of blood on an FTA card. The procedure takes only a few minutes.

Step 3

Report Delivery

You may resume your normal daily activities immediately after sample collection. No specific aftercare is needed. The sample will be securely transported to our laboratory for analysis.

Timeline: 3-4 weeks from the date the sample is received at the laboratory.

Patient Instructions

1
Before the Test:No specific preparation is required. A pre-test genetic counselling session is offered to explain the purpose, methodology, and potential outcomes of the test.
2
During the Test:A small amount of blood is collected by venipuncture, or a finger-prick blood spot is placed on an FTA card, or a sample of extracted DNA is provided.
3
After the Test:The sample is sent to our laboratory for NGS analysis. Results will be available in 3-4 weeks and shared through your preferred communication channel.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic mutations in the PIGT gene that cause Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3 (MCAHS3). It helps confirm clinical diagnosis, facilitate early intervention, estimate recurrence risk, and support family planning decisions.

How to Prepare

  • Do not eat or drink anything special; no fasting required.
  • For FTA card, allow the blood spot to air dry completely before sealing.
  • Ensure the sample is labeled with the patient's full name, date of birth, and collection date.
  • If using extracted DNA, provide at least 1 microgram of high-quality DNA in a sterile tube.

Doctor's Notes

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

"Genetic confirmation of MCAHS3 is vital for accurate prognosis and family planning. This NGS test offers a reliable and cost-effective diagnostic option."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for NGS analysis
ContainerEDTA tube, FTA card, or DNA tube
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Whole blood in EDTA: 5 days at room temperature, 14 days at 2-8°C
FTA card: stable for several months at room temperature
Extracted DNA: stable for weeks at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect sample label
  • FTA card not fully dried or improperly sealed

Understanding Your Results

This test detects alterations in the PIGT gene. All identified variants are classified according to ACMG/AMP guidelines. The report is reviewed and interpreted by a clinical geneticist.
Positive (pathogenic or likely pathogenic variant): Confirms the diagnosis of MCAHS3 in the appropriate clinical context.
Negative: No clinically significant variant found in the PIGT gene; this does not fully exclude MCAHS3 especially if only one variant is expected due to assay limitations.
VUS: A variant of uncertain significance was identified; further studies are recommended.
⚠️ When to Consult a Doctor:

If you receive a positive result, consult a neurologist and clinical geneticist for treatment options and genetic counselling. For a VUS result, discuss with your physician about additional testing or familial segregation studies.

Limitations

  • ⚠This test is limited to the PIGT gene; other genes in the GPI anchor biosynthesis pathway will not be evaluated.
  • ⚠Large structural deletions/duplications may not be detected by standard NGS.
  • ⚠Variants of uncertain significance (VUS) may require additional testing or familial segregation analysis.
  • ⚠Not intended for carrier screening or prenatal diagnosis without prior genetic counselling.

Risks & Considerations

  • ●No major risks are associated with blood collection for this test.
  • ●Minor bruising or pain at the needle site may occur and resolves within a few days.

Interfering Factors

  • ●Poor DNA quality or quantity from sample
  • ●Presence of bone marrow transplant donor DNA
  • ●Mosaicism or low-level variants
  • ●Sequence misalignment due to highly homologous pseudogenes
  • ●Sample contamination

Frequently Asked Questions

What is PIGT gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3 (MCAHS3)?
MCAHS3 is a rare genetic disorder caused by mutations in the PIGT gene. The PIGT gene is essential for making GPI anchors that attach proteins to cell membranes. Its dysfunction leads to brain, muscle, and bone abnormalities, including seizures, low muscle tone, developmental delay, and skeletal issues.
What are the symptoms of MCAHS3?
Common symptoms include hypotonia, seizures, developmental delay, intellectual disability, dysmorphic facial features, and abnormal skeletal development. The severity varies between individuals.
How is MCAHS3 diagnosed?
Diagnosis is confirmed by genetic testing. Next-generation sequencing (NGS) of the PIGT gene is the most comprehensive method. Imaging tests such as X-rays and MRI may also be used to check for skeletal or brain abnormalities.
What is the cost of the PIGT NGS genetic test at DNA Labs India?
The test costs ?20,000 (INR 20,000) across India. It includes genetic counselling and the clinical test report. Free home sample collection is provided for online bookings.
Does the test require fasting?
No, this DNA test does not require fasting. You can eat and drink normally before sample collection.
What sample is needed for the test?
The sample can be whole blood (3-5 ml in an EDTA tube), extracted DNA, or one spot of blood on an FTA card. A trained phlebotomist will collect blood if you choose the home collection option.
How long will the test report take?
Reports are available within 3 to 4 weeks after the sample reaches our laboratory.
Will I receive raw data files (FASTQ, VCF) along with the clinical report?
Yes, DNA Labs India is transparent and provides raw data files (FASTQ, VCF) along with the conclusive clinical report.
Is home sample collection available for this test?
Yes, we offer free home sample collection across more than 100 cities in India for online bookings.
Is this genetic test covered by insurance?
Most insurance providers do not cover genetic testing. You should check with your insurance company about coverage, as you may need to pay out-of-pocket.
Can this test be used for prenatal diagnosis?
This test is designed for diagnostic confirmation of symptomatic individuals. For prenatal testing, a separate procedure and genetic counselling are required. Please consult your specialist.
What should I do if the test result is positive?
If a pathogenic or likely pathogenic variant is found, consult a clinical geneticist or neurologist. They will explain the implications, guide you on symptom management, and discuss recurrence risks for family planning.
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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