Preimplantation Genetic Screening (PGS) Test
Short Name: Prenatal Diagnosis Panel 1 - CVB
Also known as: Chorionic Villus Sampling Test, CVS Genetic Panel, Prenatal Metabolic Panel 1, Chorionic Villus Biopsy Enzyme Panel, CVB Metabolic Screening
Preimplantation Genetic Screening (PGS) Test test available at DNA Labs India for ₹46,800. Uses Enzyme Assay on Chorionic Villus Biopsy Tissue samples. Results in Results are typically available within 5 working days from sample receipt at 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
This panel tests the following diseases using enzyme assay methodology on chorionic villus biopsy tissue: Metachromatic Leucodystrophy, GM1 Gangliosidosis, GM2 Gangliosidosis, Gaucher Disease, Niemann Pick Disease, Fabry Disease, Pompe Disease, and MPS-1 (Hurler Syndrome). The purpose of this panel is to diagnose inborn errors of metabolism in families with a known history of these conditions and to screen for carrier status among at-risk individuals.
- Test Code
- 1390
- CPT Code
- 81228
- ICD Code
- Q99.9
- Price
- ₹46,800
- Sample Type
- Chorionic Villus Biopsy Tissue
- Result Time
- Results are typically available within 5 working days from sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Enzyme Assay
Sample Collection
A prenatal genetic counselling session is strongly recommended before proceeding. A duly filled Prenatal Genetic Testing Consent Form (Form 18) is mandatory. Confirm gestational age is between 10 and 13 weeks. Schedule a prior appointment with DNA Labs India for sample dispatch coordination. Inform the collecting physician of any medications, maternal health conditions, or pregnancy complications.
Method: Transabdominal or Transcervical Chorionic Villus Sampling by a trained obstetrician
Laboratory Analysis
The chorionic villus biopsy is performed by a trained obstetrician or fetal medicine specialist, typically via transabdominal or transcervical approach under ultrasound guidance. A small tissue sample of 20-30 mg is obtained from the placenta. The tissue sample is immediately placed in Minimal Essential Media and Culture Medium. Decidual tissue is dissected out immediately. The sample is washed twice in cold 0.9% normal saline and 0.2 mL of cold distilled water is added. The entire procedure is guided by real-time ultrasound for safety.
Report Delivery
The prepared sample must be shipped frozen within 24 hours of collection to DNA Labs India with a prior appointment. Mild cramping or spotting may occur after the procedure, which is usually self-limiting. Report any severe pain, heavy bleeding, fluid leakage, or fever to your physician immediately. Follow-up ultrasound may be scheduled to confirm fetal well-being. Results will be available within 5 working days from sample receipt.
Timeline: Results are typically available within 5 working days from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
This panel tests the following diseases using enzyme assay methodology on chorionic villus biopsy tissue: Metachromatic Leucodystrophy, GM1 Gangliosidosis, GM2 Gangliosidosis, Gaucher Disease, Niemann Pick Disease, Fabry Disease, Pompe Disease, and MPS-1 (Hurler Syndrome). The purpose of this panel is to diagnose inborn errors of metabolism in families with a known history of these conditions and to screen for carrier status among at-risk individuals.
How to Prepare
- Sample must be collected between 10 and 13 weeks of gestation by a qualified obstetrician
- Submit 20-30 mg (minimum 15 mg) of chorionic villus biopsy tissue
- Wash tissue immediately in Minimal Essential Media and place in Culture Medium
- Dissect immediately to remove maternal decidua contamination
- Wash twice in cold 0.9% normal saline and add 0.2 mL of cold distilled water
- Ship the sample frozen within 24 hours of collection
- Duly filled Prenatal Genetic Testing Consent Form (Form 18) must accompany the sample
- Sample dispatch must be coordinated with a prior appointment from DNA Labs India
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"The Prenatal Diagnosis Panel 1 using Chorionic Villus Biopsy is a critical diagnostic tool for families with a known history of inherited metabolic disorders. When performed between 10 and 13 weeks of gestation, this test enables early detection of enzyme deficiencies that cause conditions such as Gaucher disease, Tay-Sachs variants, Fabry disease, and Pompe disease. Early diagnosis empowers expectant parents and their healthcare teams to make timely, informed decisions regarding the management and care of the pregnancy. It is important to note that this test should only be performed after proper genetic counselling and with fully informed consent. The results must always be interpreted in the context of the family history, clinical presentation, and in consultation with a qualified geneticist or fetal medicine specialist."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without the mandatory Prenatal Genetic Testing Consent Form (Form 18)
- Sample quantity below 15 mg minimum
- Sample collected outside the 10-13 weeks gestational window
- Sample not shipped frozen or received after 24 hours of collection
- Sample contaminated with excess maternal decidual tissue
- Unlabelled, mislabelled, or leaking sample container
Understanding Your Results
All tested enzyme activities fall within the normal reference range, indicating no evidence of the tested inborn errors of metabolism in the fetus. A negative result is reassuring but does not exclude all genetic or metabolic conditions.
Action: Continue routine prenatal care and follow-up as advised by your obstetrician.
Result type: Normal Enzyme Activity
One or more enzyme activities are significantly below the normal reference range, which is consistent with the diagnosis of the corresponding inborn error of metabolism in the fetus. This indicates the fetus is likely affected.
Action: Consult your genetic counsellor and fetal medicine specialist urgently for further evaluation, confirmatory molecular testing if needed, and discussion of available options.
Result type: Significantly Reduced Enzyme Activity
One or more enzyme activities fall in a borderline range between normal and deficient. This may indicate carrier status for an autosomal recessive condition or may require additional confirmatory testing.
Action: Discuss results with your geneticist. Confirmatory molecular genetic analysis may be recommended for definitive interpretation.
Result type: Intermediate / Borderline Enzyme Activity
The sample did not meet the quality or quantity criteria for reliable testing. This is not a result but a technical limitation.
Action: A repeat sample collection may be required. Coordinate with your physician and DNA Labs India for recollection scheduling.
Result type: Sample Rejection / Insufficient Data
Consult your doctor or genetic counsellor if the test reveals reduced or absent enzyme activity for any of the tested conditions. You should also seek medical advice if you experience severe cramping, heavy vaginal bleeding, leaking of amniotic fluid, fever, or chills following the chorionic villus sampling procedure. Additionally, consult your physician before the test if you have a history of miscarriage, placental abnormalities, vaginal bleeding during the current pregnancy, or any active infections, as the procedure may carry additional risks in these situations.
Limitations
- ⚠This panel is designed for diagnosis of families with known familial mutations only and is not a general population screening tool
- ⚠Enzyme assay results may not detect all carrier states with certainty, particularly for Fabry disease in female carriers due to X-inactivation
- ⚠This test does not screen for chromosomal abnormalities such as Down syndrome or structural birth defects
- ⚠Results must be interpreted in conjunction with clinical history, family pedigree analysis, and genetic counselling
- ⚠Rare private mutations affecting enzyme activity but not causing clinical disease may yield false positive results
- ⚠Confirmatory molecular genetic testing may be recommended in equivocal cases
Risks & Considerations
- ●Miscarriage risk of approximately 0.1-0.2% (1-2 per 1000 procedures)
- ●Mild cramping and vaginal spotting following the procedure
- ●Rare risk of infection at the needle insertion site
- ●Very rare risk of amniotic fluid leakage
- ●Small possibility of limb reduction defects if performed before 10 weeks (hence the 10-13 week window)
- ●False negative or false positive results may occur, necessitating confirmatory testing
Interfering Factors
- ●Contamination of the chorionic villus sample with maternal decidual tissue can affect enzyme activity readings
- ●Improper sample handling, delayed freezing, or deviation from the specified transport protocol
- ●Sample collected outside the recommended gestational window of 10 to 13 weeks
- ●Insufficient sample quantity (below the minimum 15 mg requirement)
- ●Use of contaminated or expired culture media during sample processing
Compare With Similar Tests
| Test | Preimplantation Genetic Screening (PGS) Test | Amniocentesis Genetic Panel | Non-Invasive Prenatal Testing (NIPT) | Prenatal Diagnosis Panel 2 (Amniocentesis) |
|---|---|---|---|---|
| Comparison | Preimplantation Genetic Screening (PGS) Test |
Frequently Asked Questions
What is the Prenatal Diagnosis Panel 1 Chorionic Villus Biopsy Test?
At what stage of pregnancy should the Chorionic Villus Biopsy be performed?
Is the Chorionic Villus Biopsy procedure safe for the mother and baby?
What diseases does the Prenatal Diagnosis Panel 1 screen for?
What is the cost of the Prenatal Diagnosis Panel 1 Chorionic Villus Biopsy Test in India?
How long does it take to get the results of this test?
What sample is required for this test?
Do I need a consent form for this test?
Is this test the same as Non-Invasive Prenatal Testing (NIPT)?
Who should consider taking the Prenatal Diagnosis Panel 1 CVB Test?
Is home sample collection available for this test?
What should I do if the test results show a deficiency in one of the enzymes tested?
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