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PURA Gene Mental retardation, autosomal dominant type 31 NGS Genetic Test

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PURA Gene Mental retardation, autosomal dominant type 31 NGS Genetic Test

Short Name: PURA Gene NGS Test

Also known as: PURA-related intellectual disability, Mental retardation, autosomal dominant type 31, MRD31, PURA-related neurodevelopmental disorder

PURA Gene Mental retardation, autosomal dominant type 31 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 issued within 3 to 4 weeks after sample receipt at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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

To detect pathogenic or likely pathogenic variants in the PURA gene and support the clinical diagnosis of autosomal dominant type 31 intellectual disability, enabling appropriate medical management and genetic counselling.

Test Code
4245
CPT Code
Not applicable
ICD Code
Not applicable
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks after sample receipt at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A pre-test genetic counselling session should be completed and the clinical history and pedigree chart must be documented before sample collection.

Method: Peripheral venous blood collection / FTA card blood spot / extracted DNA submission

Step 2

Laboratory Analysis

A standard venipuncture or FTA card blood spot is performed by a trained phlebotomist. For FTA cards, a single drop of blood is applied to the designated area and allowed to dry as per instructions.

Step 3

Report Delivery

There are no activity restrictions after sample collection. The laboratory will track the sample and share the report through the selected delivery mode once testing is complete.

Timeline: Reports are issued within 3 to 4 weeks after sample receipt at the laboratory.

Patient Instructions

1
Before the Test:No fasting is required. The patient may continue routine medications unless advised otherwise by the clinician. Please carry previous medical records, prescription notes, imaging and any prior genetic reports. A pre-test genetic counselling session will be arranged to draw a pedigree chart.
2
During the Test:A qualified phlebotomist will collect a blood sample. For FTA card collection, a finger-prick or heel-prick blood drop is spotted onto the card, depending on age. The sample is labelled and transported to the genetics laboratory.
3
After the Test:There are no activity restrictions after sample collection. The laboratory will track the sample and provide the report via portal, email, or WhatsApp. Review the result with your treating physician or clinical geneticist.

About This Test

Who Should Get This Test

To detect pathogenic or likely pathogenic variants in the PURA gene and support the clinical diagnosis of autosomal dominant type 31 intellectual disability, enabling appropriate medical management and genetic counselling.

How to Prepare

  • No fasting is required
  • Bring previous medical reports, family history details and a valid identification document
  • For children, parent or guardian consent is required
  • For FTA card collection, follow the provided instructions for blood spot application and drying

Doctor's Notes

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

"A definitive genetic diagnosis can influence clinical surveillance, therapeutic planning, and recurrence risk counselling for the family. Genetic counselling before and after testing is essential when a hereditary cause of intellectual disability is suspected."

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; one drop if using FTA card
ContainerEDTA vacutainer / FTA card / DNA vial
Collection MethodPeripheral venous blood collection / FTA card blood spot / extracted DNA submission

Sample Stability

Whole blood (EDTA): 24-48 hours at 2-8°C
FTA card blood spot: stable at room temperature
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Insufficient quantity of sample
  • Incorrect or missing sample label
  • Sample not accompanied by consent form and clinical details
  • DNA degradation or contamination rendering the sample uninterpretable

Understanding Your Results

The report should be interpreted in the context of the clinical presentation, family history, and ACMG variant classification guidelines. Genetic counselling is recommended before and after testing.
Pathogenic or likely pathogenic variant in PURA gene: consistent with autosomal dominant type 31 intellectual disability. Family counselling and parental testing may be recommended to assess recurrence risk.
Variant of uncertain significance (VUS): not diagnostic. Additional familial segregation analysis or complementary testing may be advised.
No pathogenic variant detected: reduces but does not exclude PURA-related disorder; the clinician may consider a broader intellectual disability panel or further investigations.
⚠️ When to Consult a Doctor:

Consult a clinical geneticist or your referring specialist if the result is positive, if a variant of uncertain significance is reported, or if you need help understanding the implications for family members.

Limitations

  • ⚠This test is targeted to the PURA gene only
  • ⚠Standard NGS may not reliably detect large deletions, duplications, repeat expansions, or deep intronic variants
  • ⚠A variant of uncertain significance may require additional family studies
  • ⚠A negative result does not exclude all genetic causes of intellectual disability

Risks & Considerations

  • ●Minimal pain or bleeding at the venipuncture site
  • ●Rare small bruise or hematoma
  • ●FTA blood spot collection is minimally invasive

Interfering Factors

  • ●Poor sample quality or degraded DNA
  • ●Contamination of sample during collection
  • ●Insufficient DNA quantity for sequencing
  • ●Incomplete coverage of PURA gene regions
  • ●Missing clinical history may affect variant interpretation

Compare With Similar Tests

TestPURA Gene Mental retardation, autosomal dominant type 31 NGS Genetic TestPURA Gene NGS TestIntellectual Disability NGS PanelWhole Exome Sequencing (WES)
ComparisonPURA Gene Mental retardation, autosomal dominant type 31 NGS Genetic Test

Frequently Asked Questions

What is the PURA gene?
The PURA gene provides instructions for making Pur-alpha protein, which is involved in neuronal development and regulation of gene expression. Pathogenic variants in this gene are associated with autosomal dominant type 31 intellectual disability.
What is autosomal dominant type 31 intellectual disability?
It is a genetic form of intellectual disability caused by variants in the PURA gene. Autosomal dominant means having one altered copy of the gene is sufficient to cause the condition; many reported cases are de novo.
Who should take this PURA gene NGS test?
It may be considered in individuals with global developmental delay, intellectual disability, speech or motor delay, seizures, hypotonia, microcephaly, or characteristic facial features when PURA-related disorder is suspected by a specialist.
What is the price of this test at DNA Labs India?
The discounted price for this NGS genetic test is Rs 20000. Online booking includes free home sample collection across multiple cities in India.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card is accepted. A healthcare professional will guide the appropriate collection method.
Is fasting needed before the test?
No, fasting is not required for this genetic test.
How long does it take to get the report?
Reports are usually available within 3 to 4 weeks after the sample reaches the laboratory.
What is NGS genetic testing?
NGS is a high-throughput DNA sequencing technology that can accurately analyse targeted genes for mutations. In this test, NGS is used to sequence the PURA gene and detect variants associated with intellectual disability.
Does DNA Labs India provide raw data along with the report?
Yes, DNA Labs India shares raw data files, including FASTQ and VCF files, along with the conclusive clinical report for transparency.
What does a negative result mean?
A negative result means no pathogenic variant was found in the PURA gene. It does not completely rule out PURA-related disorder or other genetic causes; further evaluation may be needed based on clinical features.
Do I need genetic counselling before testing?
A pre-test genetic counselling session is recommended as part of the test process. It helps in drawing a pedigree chart and assessing the clinical indication and recurrence risk.
Can this test be done for children with intellectual disability?
Yes, this test is suitable for children and adults with unexplained intellectual disability or developmental delay. Consent and clinical correlation are essential.
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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