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PACS1 Gene Mental retardation, autosomal dominant type 17 NGS Genetic Test

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PACS1 Gene Mental retardation, autosomal dominant type 17 NGS Genetic Test

Short Name: PACS1 NGS Genetic Test

Also known as: PACS1 gene sequencing, MRD17 genetic test, PACS1-related intellectual disability NGS panel, PACS1 gene mutation analysis

PACS1 Gene Mental retardation, autosomal dominant type 17 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 3 to 4 weeks from the date the sample arrives at the laboratory.. Free home collection in 300+ cities across India.

Genetic Test🏠 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 pathogenic variants in the PACS1 gene to confirm a clinical diagnosis of autosomal dominant mental retardation type 17 (MRD17) and to provide information for genetic counseling and recurrence-risk estimation.

Test Code
4233
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from the date the sample arrives at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting required. Please provide a clinical history and genetic counseling summary. No specific dietary restrictions.

Method: Peripheral blood collection or FTA card spotting

Step 2

Laboratory Analysis

A peripheral blood sample will be collected in EDTA vacutainer or on an FTA card as instructed.

Step 3

Report Delivery

No special precautions. Resume normal activities.

Timeline: 3 to 4 weeks from the date the sample arrives at the laboratory.

Patient Instructions

1
Before the Test:Complete the pre-test genetic counseling session to understand the implications of the results. Provide a detailed family history and previous reports, if available.
2
During the Test:The sample is collected by a trained phlebotomist. The procedure takes about 5-10 minutes.
3
After the Test:Your sample will be transported to the laboratory for NGS analysis. You may receive preliminary findings from the genetic counselor.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect pathogenic variants in the PACS1 gene to confirm a clinical diagnosis of autosomal dominant mental retardation type 17 (MRD17) and to provide information for genetic counseling and recurrence-risk estimation.

How to Prepare

  • Do not shake the EDTA tube vigorously
  • Store blood at 2-8°C if transport is delayed
  • FTA card must be air-dried completely before placing in the provided envelope

Doctor's Notes

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

"For couples planning a family or with a child with intellectual disability, genetic testing provides crucial information for recurrence risk and prenatal diagnostics."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for NGS (typically 5 mL blood or one FTA spot)
ContainerEDTA vacutainer or Whatman FTA card
Collection MethodPeripheral blood collection or FTA card spotting

Sample Stability

EDTA blood: 48 hours at 2-8°C
Extracted DNA: 1 week at 2-8°C
FTA card: 12 months at room temperature
Sample Rejection Criteria:
  • Hemolyzed, clotted or frozen blood
  • Improperly labeled sample
  • Insufficient quantity
  • Confirmed sample mix-up

Understanding Your Results

This NGS-based test is used to detect pathogenic mutations in the PACS1 gene. A negative result reduces the likelihood of PACS1-related MRD17, while a positive result confirms the diagnosis and informs recurrence risk.
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⚠️ When to Consult a Doctor:

If you have a child with unexplained intellectual disability or global developmental delay, if there is a family history of autosomal dominant intellectual disability, or if you are planning prenatal testing, consult a geneticist or neurologist.

Limitations

  • ⚠NGS may not detect large structural rearrangements, repeat expansions, or mosaic variants with low allele fraction.
  • ⚠Pathogenic variants in genes other than PACS1 will not be identified by this targeted test.
  • ⚠Variants of uncertain significance (VUS) may require further family studies.

Risks & Considerations

  • ●Minimal risk of bruising at the blood draw site
  • ●Potential anxiety and emotional distress from receiving genetic results
  • ●Risk of identifying incidental findings

Interfering Factors

  • ●Recent allogeneic blood transfusion
  • ●Maternal cell contamination
  • ●DNA degradation due to improper storage
  • ●Incorrect anticoagulant in blood sample

Frequently Asked Questions

What is PACS1 gene mental retardation?
PACS1 gene mental retardation, also called autosomal dominant mental retardation type 17 (MRD17), is a rare genetic condition caused by mutations in the PACS1 gene on chromosome 11.
What are the symptoms of MRD17?
Symptoms include moderate to severe intellectual disability, delayed speech and language development, behavioral problems, distinctive facial features (prominent forehead, widely spaced eyes), and seizures in some cases.
How is PACS1 gene mental retardation diagnosed?
Diagnosis is confirmed through molecular genetic testing, commonly using next-generation sequencing (NGS) to identify mutations in the PACS1 gene.
What is the cost of PACS1 gene NGS genetic test in India?
At DNA Labs India, the PACS1 gene NGS genetic test costs INR 20,000, which includes genetic counseling and free home sample collection in many cities.
What sample is required for the PACS1 gene NGS test?
The test is performed on whole blood (EDTA), extracted DNA, or one drop of blood on an FTA card.
How long will it take to receive the report?
Reports are usually available within 3 to 4 weeks after the sample reaches the laboratory.
Is fasting required before this genetic test?
No fasting is needed. You can eat and drink normally.
Which doctor should I consult for MRD17 testing?
A clinical geneticist, neurologist, or an obstetrician-gynecologist for prenatal concerns.
Will I receive raw data files along with the clinical report?
Yes. DNA Labs India provides raw data (FASTQ) and VCF files along with the clinical report upon request.
Does DNA Labs India provide home sample collection for this test?
Yes, free home sample collection is available across multiple cities when you book online.
Can I get this test for my child with intellectual disability?
Yes, the test is appropriate if your child has clinical features suggestive of PACS1-related MRD17, after genetic counseling.
What does a negative result mean?
A negative NGS result means no pathogenic mutation was found in the PACS1 gene, so PACS1-related MRD17 is unlikely. However, other genetic causes of intellectual disability should still be considered.
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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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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