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chr. 22q13.3 Gene Phelan-McDermid syndrome NGS Genetic Test

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chr. 22q13.3 Gene Phelan-McDermid syndrome NGS Genetic Test

Short Name: Phelan-McDermid NGS Test

Also known as: 22q13.3 Deletion Syndrome Test, SHANK3 Gene Sequencing Test, PMS NGS Panel

chr. 22q13.3 Gene Phelan-McDermid syndrome 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 the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric, Adult🏠 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 this NGS genetic test is to detect deletions or mutations in the SHANK3 gene on chromosome 22q13.3, which is the primary cause of Phelan-McDermid syndrome. The test aids in confirming a clinical diagnosis, guiding early intervention, and providing information for genetic counseling and family planning.

Test Code
5899
CPT Code
81407
ICD Code
Q93.5
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 the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and draw a pedigree chart.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist. If using FTA card, a simple fingerstick is sufficient.

Step 3

Report Delivery

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

Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:A pre-test genetic counseling session is recommended to understand the purpose, risks, and benefits of the test. The counselor will draw a pedigree chart to assess family history.
2
During the Test:The test involves a simple blood draw or fingerstick. The sample is sent to the laboratory for NGS analysis.
3
After the Test:Post-test genetic counseling is advised to discuss results and implications for the patient and family. The report will be available in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect deletions or mutations in the SHANK3 gene on chromosome 22q13.3, which is the primary cause of Phelan-McDermid syndrome. The test aids in confirming a clinical diagnosis, guiding early intervention, and providing information for genetic counseling and family planning.

How to Prepare

  • Ensure the sample is collected in an EDTA tube or on an FTA card as provided.
  • For FTA card, allow the blood spot to dry completely before sealing.
  • Label the sample with patient name, date, and time of collection.

Doctor's Notes

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

"Early genetic confirmation of Phelan-McDermid syndrome is crucial for timely intervention and family counseling. This NGS test provides a definitive diagnosis."

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 tube: 24-48 hours at room temperature
FTA card: stable for several months at room temperature
Extracted DNA: stable for months at -20°C
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Clotted blood sample
  • Insufficient sample volume
  • Improperly labeled sample

Understanding Your Results

The test results are interpreted by a clinical geneticist. A positive result indicates the presence of a deletion or mutation in the SHANK3 gene, confirming the diagnosis of Phelan-McDermid syndrome. A negative result does not completely rule out the syndrome, as other genetic causes may exist.
📊

Positive

Pathogenic variant or deletion detected in SHANK3 gene. Confirms diagnosis of Phelan-McDermid syndrome. Genetic counseling recommended.

📊

Negative

No pathogenic variant or deletion detected. Clinical diagnosis may still be considered based on symptoms; further testing may be advised.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found but its clinical significance is unclear. Additional family studies may be needed.

⚠️ When to Consult a Doctor:

If your child shows developmental delays, speech difficulties, or other symptoms suggestive of Phelan-McDermid syndrome, consult a pediatrician or geneticist for evaluation and testing.

Limitations

  • ⚠This test detects deletions and mutations in SHANK3 but may not detect other rare genetic causes of similar symptoms.
  • ⚠Variants of uncertain significance may be reported; further testing may be needed.
  • ⚠The test does not assess the severity of symptoms or predict disease progression.

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of receiving a genetic diagnosis
  • ●Potential for uncertain results requiring further testing

Interfering Factors

  • ●Maternal cell contamination in blood samples
  • ●Low DNA quality or quantity
  • ●Presence of mosaicism (may be missed)
  • ●Incorrect sample labeling

Compare With Similar Tests

Testchr. 22q13.3 Gene Phelan-McDermid syndrome NGS Genetic TestChromosomal Microarray (CMA)FISH (Fluorescence In Situ Hybridization)Karyotyping
Comparisonchr. 22q13.3 Gene Phelan-McDermid syndrome NGS Genetic Test

Frequently Asked Questions

What is Phelan-McDermid syndrome?
Phelan-McDermid syndrome is a rare genetic disorder caused by a deletion on chromosome 22q13.3, affecting the SHANK3 gene. It leads to developmental delays, intellectual disability, and speech problems.
How is Phelan-McDermid syndrome diagnosed?
Diagnosis is confirmed through genetic testing, such as NGS, which detects deletions or mutations in the SHANK3 gene.
What is the cost of the NGS genetic test for Phelan-McDermid syndrome in India?
The cost is approximately INR 20,000 at DNA Labs India, with free home sample collection available.
What sample is required for the test?
A blood sample (2-3 ml in EDTA tube) or one drop of blood on an FTA card is required.
How long does it take to get the results?
Reports are typically available within 3 to 4 weeks after the sample is received.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Can the test be done on children?
Yes, the test is suitable for children and adults. It is often performed on children showing developmental delays.
What does a positive result mean?
A positive result indicates a deletion or mutation in the SHANK3 gene, confirming Phelan-McDermid syndrome.
Are there any risks associated with the test?
The test involves a simple blood draw, which carries minimal risks like bruising or infection.
Is genetic counseling included?
Yes, a genetic counseling session is included before the test to discuss the implications and family history.
Can this test be used for prenatal diagnosis?
This test is not intended for prenatal diagnosis. Please consult your genetic counselor for appropriate prenatal testing options.
Does insurance cover the cost?
Insurance coverage varies. Please check with your insurance provider. DNA Labs India offers the test at a discounted price of INR 20,000.
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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