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Pre-Implantation Genetic Disorder/PGD (Single Gene Disorder- Known Mutation)- Baseline Test

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Pre-Implantation Genetic Disorder/PGD (Single Gene Disorder- Known Mutation)- Baseline Test

Also known as: Pre-implantation Genetic Testing for Monogenic Disorders (PGT-M), PGD for Single Gene Disorders

Pre-Implantation Genetic Disorder/PGD (Single Gene Disorder- Known Mutation)- Baseline Test test available at DNA Labs India for ₹45,000. Uses Sanger Sequencing on Peripheral blood of parents and affected child samples. Results in 15-20 days. Free home collection in 300+ cities across India.

Genetic ScreeningAdults🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of PGD for single gene disorders with known mutations is to identify embryos that carry specific genetic mutations before they are implanted during IVF. This allows couples to select unaffected embryos, thereby preventing the transmission of genetic disorders to their offspring and increasing the chances of a healthy pregnancy.

Test Code
3163
Price
₹45,000
Sample Type
Peripheral blood of parents and affected child
Result Time
15-20 days
Fasting Required
No
Method
Sanger Sequencing
Step 1

Sample Collection

A doctor's prescription is required. Prescription is not applicable for surgery, pregnancy cases, or individuals planning to travel abroad.

Method: Blood draw

Step 2

Laboratory Analysis

Peripheral blood sample will be collected from both parents and an affected child if available. The procedure involves a standard blood draw using an EDTA vacutainer.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Keep the area clean and dry.

Timeline: 15-20 days

Patient Instructions

1
Before the Test:A doctor's prescription is required. Prescription is not applicable for surgery, pregnancy cases, or individuals planning to travel abroad.
2
During the Test:Peripheral blood sample will be collected from both parents and an affected child if available. The procedure involves a standard blood draw using an EDTA vacutainer.
3
After the Test:Apply pressure to the puncture site to prevent bleeding. Keep the area clean and dry.

About This Test

Who Should Get This Test

The purpose of PGD for single gene disorders with known mutations is to identify embryos that carry specific genetic mutations before they are implanted during IVF. This allows couples to select unaffected embryos, thereby preventing the transmission of genetic disorders to their offspring and increasing the chances of a healthy pregnancy.

How to Prepare

  • Bring doctor's prescription
  • Inform about any medications or health conditions
  • Ensure sample is collected in an EDTA vacutainer

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"As an OB-GYN specialist, I recommend PGD for couples with known genetic mutations to ensure healthy offspring. Early consultation is key for family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypePeripheral blood of parents and affected child
Sample Volume2ml
ContainerEDTA Vacutainer
Collection MethodBlood draw

Sample Stability

Blood samples should be stored at 2-8°C and processed within 24 hours
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect container

Understanding Your Results

Results from PGD testing indicate whether embryos carry the specific genetic mutation tested for. A negative result means the mutation was not detected, while a positive result indicates the presence of the mutation.
📊

Negative

Embryo does not carry the specified genetic mutation, suitable for implantation.

📊

Positive

Embryo carries the genetic mutation, may not be recommended for implantation.

⚠️ When to Consult a Doctor:

Consult your doctor or genetic counselor to discuss PGD results and implications for family planning. If you have a family history of genetic disorders, seek advice before IVF.

Limitations

  • ⚠PGD does not guarantee a healthy pregnancy
  • ⚠May not detect all genetic variations
  • ⚠Requires IVF procedure
  • ⚠Cost may be prohibitive for some

Risks & Considerations

  • ●Minimal risks from blood draw such as bruising or infection
  • ●PGD involves IVF risks including multiple pregnancies or ovarian hyperstimulation syndrome

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Technical errors in sequencing

Frequently Asked Questions

What is Pre-Implantation Genetic Disorder (PGD) for single gene disorders?
PGD is a technique used during IVF to screen embryos for specific genetic mutations before implantation, helping prevent the transmission of genetic disorders to offspring.
Who is PGD testing recommended for?
PGD is recommended for couples with a family history of genetic disorders, known carriers of genetic mutations, or those who have had a child with a genetic condition.
How is PGD performed?
PGD involves creating embryos through IVF, then extracting a cell from each embryo to test for the specific genetic mutation using methods like Sanger sequencing.
What is the baseline cost of PGD in India?
The baseline cost for PGD for single gene disorders with known mutations at DNA Labs India is INR 45,000.
Is a prescription required for PGD testing?
Yes, a doctor's prescription is required for PGD testing, except for surgery, pregnancy cases, or individuals planning to travel abroad.
How long does it take to receive PGD results?
Results are typically available within 15-20 days after sample collection.
What are the risks associated with PGD?
Risks are minimal and mainly related to the IVF procedure, such as multiple pregnancies or ovarian hyperstimulation syndrome. The blood draw has minor risks like bruising.
Can PGD detect all genetic disorders?
PGD is designed for specific known mutations and may not detect all genetic variations or disorders. It is targeted testing.
Is PGD covered by health insurance in India?
PGD is generally not covered by standard health insurance plans. Coverage may vary, so it's advisable to check with your insurance provider.
What samples are needed for PGD testing?
Peripheral blood samples from both parents and an affected child if available are required for the baseline test.
How accurate is PGD testing?
PGD is highly accurate for detecting the specific mutation tested, but no test is 100% foolproof. Accuracy depends on the mutation and laboratory techniques.
What happens if an embryo is found to have a genetic mutation?
If an embryo carries the mutation, it may not be selected for implantation. Couples can choose unaffected embryos to reduce the risk of passing on the disorder.
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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