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POGZ Gene Mental retardation, autosomal dominant type 37 NGS Genetic Test

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POGZ Gene Mental retardation, autosomal dominant type 37 NGS Genetic Test

Short Name: POGZ Gene NGS Test

Also known as: POGZ Gene Intellectual Disability Test, Autosomal Dominant Mental Retardation 37 Genetic Test, POGZ NGS Sequencing

POGZ Gene Mental retardation, autosomal dominant type 37 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger sequencing for variant confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are generally available in 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

Next Generation Sequencing (NGS)All 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 detect pathogenic mutations in the POGZ gene to confirm a clinical diagnosis of autosomal dominant mental retardation type 37, enabling targeted interventions and family planning.

Test Code
4240
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally available in 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS), Sanger sequencing for variant confirmation
Step 1

Sample Collection

No special preparation required. Clinical history and genetic counseling are recommended.

Method: Venipuncture / FTA card blood spot

Step 2

Laboratory Analysis

Blood sample collection or buccal swab/FTA card spot. Samples are labeled and transported according to standard procedures.

Step 3

Report Delivery

The patient may resume normal activities immediately.

Timeline: Reports are generally available in 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No special preparation is needed. A doctor's request and genetic counseling session may be arranged.
2
During the Test:A small blood sample is collected, or an FTA card spot / extracted DNA is submitted. The process takes only a few minutes.
3
After the Test:The sample is sent to the laboratory. Reports are shared in 3–4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect pathogenic mutations in the POGZ gene to confirm a clinical diagnosis of autosomal dominant mental retardation type 37, enabling targeted interventions and family planning.

How to Prepare

  • For blood sample: Collect in EDTA vacutainer.
  • For FTA card: Apply one drop of blood onto the FTA card and air dry.
  • For extracted DNA: Send in an appropriate tube with patient ID.

Doctor's Notes

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

"Early molecular diagnosis enables appropriate developmental support 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 VolumeAs per laboratory protocol
ContainerEDTA vacutainer / FTA card / DNA tube
Collection MethodVenipuncture / FTA card blood spot

Sample Stability

Blood/EDTA: 24–72 hours at 2–8°C
FTA card: 2–5 years at room temperature
Extracted DNA: 1 year at −20°C
Sample Rejection Criteria:
  • Hemolysed blood sample
  • Incorrectly labeled sample
  • Sample not accompanied by clinical history

Understanding Your Results

The NGS report is interpreted by clinical geneticists using ACMG guidelines.
No pathogenic variant detected: A negative result reduces the likelihood of POGZ-related intellectual disability, although a genetic cause cannot be entirely excluded.
Pathogenic variant detected: Confirms the clinical diagnosis. Referral for genetic counseling and family testing is recommended.
Variant of uncertain significance (VUS): Additional testing of family members may help classify the variant.
⚠️ When to Consult a Doctor:

If you have a personal or family history of intellectual disability or developmental delay, or if symptoms such as speech delay, seizures, or behavioral issues are present.

Limitations

  • ⚠This test does not detect large structural chromosomal rearrangements or repeat expansions.
  • ⚠Variants in deep intronic or promoter regions may not be identified.
  • ⚠Results should be interpreted in conjunction with clinical findings.
  • ⚠A negative result does not exclude all genetic causes of intellectual disability.

Risks & Considerations

  • ●No significant risks; some patients may experience slight bruising or discomfort at the blood collection site.

Interfering Factors

  • ●Poor sample quality or quantity (e.g., hemolysed blood, insufficient DNA)
  • ●Sample contamination during collection or handling
  • ●Incorrectly labeled samples
  • ●Sequencing variants in regions not covered by the assay

Compare With Similar Tests

TestPOGZ Gene Mental retardation, autosomal dominant type 37 NGS Genetic Test
ComparisonPOGZ Gene Mental retardation, autosomal dominant type 37 NGS Genetic Test

Frequently Asked Questions

What is the POGZ gene?
The POGZ gene provides instructions for making a protein that is important for normal brain development and function. Changes (mutations) in this gene are linked to intellectual disability and developmental delay.
What is autosomal dominant type 37 mental retardation?
It is a genetic condition caused by mutations in the POGZ gene. Because the mutation is autosomal dominant, only one altered copy of the gene is sufficient to cause the disorder.
What are the common symptoms of POGZ gene mutations?
Symptoms may include intellectual disability, delayed speech and language, behavioral problems, sleep disturbances, seizures, and abnormal facial features.
How is a POGZ gene mutation diagnosed?
It is diagnosed through genetic testing, specifically Next Generation Sequencing (NGS), which analyses the coding regions of the POGZ gene for sequence variants.
Why is NGS preferred for this test?
NGS allows simultaneous analysis of multiple genes at high throughput and is cost-effective, providing accurate detection of single nucleotide variants, insertions, and deletions.
Is genetic counseling necessary before undergoing this test?
Yes, genetic counseling is recommended to review family history, understand the implications of results, and provide informed consent.
What sample is required for the POGZ NGS test?
The test can be performed on blood, extracted DNA, or a single drop of blood applied to an FTA card.
How will I receive the test report?
The report is shared online, by email, and on WhatsApp. Raw data files (FASTQ, VCF) are also provided for transparency.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across major Indian cities.
What is the cost of the POGZ gene NGS test?
The special discounted price is INR 20000 across India.
Can a VUS (variant of uncertain significance) be reported?
Yes, if a VUS is found, family testing may be recommended to classify the variant according to ACMG guidelines.
Does insurance cover the cost of this genetic test?
Generally not; coverage depends on the policy and indication. It is advisable to check with your insurer.
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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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