Skip to main content
DNA Labs India

ALX4 Gene Parietal foramina type 2 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ALX4 Gene Parietal foramina type 2 NGS Genetic Test

Short Name: ALX4 NGS Test

Also known as: Parietal Foramina Type 2 Genetic Test, ALX4 Gene NGS, ALX4-Related Parietal Foramina NGS Test, Parietal Foramina 2 NGS Genetic Test

ALX4 Gene Parietal foramina type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology, Targeted Gene Sequencing on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are issued in 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The test is intended to identify disease-causing variants in the ALX4 gene in patients with clinical or radiological features suggestive of parietal foramina type 2. It also supports genetic counseling and helps distinguish ALX4-related disease from other forms of skull ossification defects.

Test Code
4439
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are issued in 3 to 4 weeks from sample receipt.
Fasting Required
No
Method
NGS Technology, Targeted Gene Sequencing
Step 1

Sample Collection

No special preparation is needed. Fasting is not required. Genetic counselling and a detailed family pedigree are recommended before sample collection. The patient should bring relevant imaging and previous genetic reports if available.

Method: Peripheral venipuncture / FTA card spot / DNA sample transfer

Step 2

Laboratory Analysis

Blood sample is collected by venipuncture in an EDTA tube. If an FTA card is used, one drop of blood is applied to the marked circle. Extracted DNA samples are transferred in a sterile, labelled tube.

Step 3

Report Delivery

There are no activity restrictions after sample collection. The sample will be transported to the DNA Labs India laboratory. Reports are issued in 3 to 4 weeks and shared through online portal, email, or WhatsApp.

Timeline: Reports are issued in 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:No fasting is necessary. Complete genetic counselling and clinical history, including family pedigree, are required before sample collection. Bring any available skull imaging reports.
2
During the Test:A blood sample or FTA card spot will be collected by a trained phlebotomist. The collection process takes only a few minutes.
3
After the Test:No recovery time is needed. You may resume daily activities immediately. The report will be shared after 3 to 4 weeks.

About This Test

Who Should Get This Test

The test is intended to identify disease-causing variants in the ALX4 gene in patients with clinical or radiological features suggestive of parietal foramina type 2. It also supports genetic counseling and helps distinguish ALX4-related disease from other forms of skull ossification defects.

How to Prepare

  • Online booking should be completed before sample collection for free home collection.
  • The referral form and clinical history must be filled out completely.
  • FTA card blood should be air-dried and placed in the provided envelope.
  • Extracted DNA samples should be kept cold during transport.
  • EDTA blood samples should not be frozen or delayed beyond 48 hours.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"When a parietal defect is identified, the first priority is to document its structure by imaging and to look for any symptoms. Genetic testing helps establish the molecular cause and supports accurate reproductive counselling. A negative NGS test still requires careful clinical interpretation because multiple genes may cause similar skull ossification defects."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeNot specified by prescriber
ContainerEDTA vacutainer, FTA card, or sterile DNA tube
Collection MethodPeripheral venipuncture / FTA card spot / DNA sample transfer

Sample Stability

Whole blood: 24 to 48 hours at room temperature; transport with cold pack if delayed.
FTA card: stable at room temperature for several months.
Extracted DNA: stable at -20°C for long-term storage; keep cold during transport.
Sample Rejection Criteria:
  • Unlabelled or mislabelled specimen
  • Clotted or haemolysed blood sample
  • Insufficient quantity or poor-quality DNA
  • FTA card not dried before sealing
  • Sample exposed to extreme temperatures during transport

Understanding Your Results

The genetic test report is prepared after NGS sequencing and review by clinical genetics professionals. Results should be interpreted in the context of the patient's clinical and radiological findings.
📊

Pathogenic or likely pathogenic variant in ALX4

Supports the molecular diagnosis of ALX4-related parietal foramina type 2.

📊

Variant of uncertain significance (VUS)

The variant cannot be classified as disease-causing or benign; further family testing and clinical correlation are needed.

📊

No pathogenic variant detected

A negative result does not rule out parietal foramina because the condition may be caused by other genes, variants not covered by this test, or non-genetic factors.

⚠️ When to Consult a Doctor:

Consult your referring clinician and a clinical geneticist if the report shows a pathogenic variant, if symptoms such as persistent headaches, scalp swelling, seizures, or focal neurological deficits develop, or if you are planning a family and want to understand recurrence risks.

Limitations

  • ⚠This targeted NGS test does not analyse all genes associated with skull ossification defects
  • ⚠Large gene rearrangements or copy number variations may not be reliably detected by standard NGS
  • ⚠A negative result does not exclude a clinical diagnosis of parietal foramina
  • ⚠Variants of uncertain significance may require additional family studies

Risks & Considerations

  • ●Minor pain or bruising at the needle site
  • ●Very low risk of bleeding or infection from venipuncture
  • ●No significant physical risks from FTA card sampling

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Contamination during sample handling
  • ●Variants located deep in intronic or regulatory regions may not be detected by targeted NGS
  • ●Mosaicism with variant allele fraction below the analytical sensitivity

Compare With Similar Tests

TestALX4 Gene Parietal foramina type 2 NGS Genetic Test
ComparisonALX4 Gene Parietal foramina type 2 NGS Genetic Test

Frequently Asked Questions

What is ALX4 gene parietal foramina type 2?
ALX4-related parietal foramina type 2 is a rare skeletal condition where small openings or depressions form in the parietal bones of the skull. It is caused by pathogenic changes in the ALX4 gene, which is important for normal skull development.
What are the symptoms of ALX4 gene parietal foramina type 2?
Many people have no symptoms. Some may feel a soft spot, have headaches, or notice small depressions on the top of the skull. Rarely, if the defect is large, it can cause neurological symptoms and needs urgent medical review.
How is this condition diagnosed?
It is often found on skull X-ray, CT, or MRI. Genetic testing, such as the ALX4 NGS test, can confirm the diagnosis by identifying a mutation in the ALX4 gene.
What is an NGS genetic test?
NGS, or next-generation sequencing, is a high-throughput DNA sequencing technology that can read multiple genes at the same time. For this test, it analyses the ALX4 gene to detect disease-causing variants.
What sample is needed for this test?
The test can be performed on blood, extracted DNA, or one drop of blood placed on an FTA card.
Do I need fasting before the ALX4 NGS test?
No. This is a genetic test and fasting is not required.
How long does it take to get the reports?
Reports are generally available in 3 to 4 weeks from the time the sample reaches the laboratory.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings for this test across major cities in India.
Where is this test available?
It is available across India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Jaipur, Ahmedabad, and other cities where DNA Labs India operates.
Is genetic counseling included?
Yes, a genetic counselling session is part of the testing process. The counsellor will help draw a family pedigree and explain the implications of testing.
What does a negative NGS result mean?
A negative result means no pathogenic variant was found in the ALX4 gene. It does not completely exclude parietal foramina because other genes or non-genetic causes can produce skull defects.
What is the cost of the ALX4 gene parietal foramina type 2 NGS test?
The test costs approximately INR 20,000 in India. The exact cost may vary by laboratory, and you should confirm insurance coverage separately.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.

LIMS Integration

Your Data Privacy

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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.