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ARX Gene Partington syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ARX Gene Partington syndrome NGS Genetic Test

Short Name: ARX Gene NGS Test

Also known as: Partington syndrome genetic test, ARX gene sequencing, X-linked intellectual disability ARX NGS test

ARX Gene Partington 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 3 to 4 weeks after sample receipt in the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 identify disease-causing variants in the ARX gene in individuals with clinical features suggestive of Partington syndrome or ARX-related neurodevelopmental disorders. This helps confirm the diagnosis, assess carrier status in at-risk family members, and inform genetic counselling and recurrence risk for the family.

Test Code
4452
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks after sample receipt in the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. A genetic counselling session is recommended to record clinical history and draw a family pedigree before the test.

Method: Venipuncture or dried blood spot collection

Step 2

Laboratory Analysis

A venous blood sample is collected from an arm vein; if an FTA card is used, one drop of blood is placed on the card and allowed to dry.

Step 3

Report Delivery

No post-procedure restrictions are needed. The sample is transported to the laboratory under appropriate conditions for genetic analysis.

Timeline: 3 to 4 weeks after sample receipt in the laboratory.

Patient Instructions

1
Before the Test:No fasting is required. A genetic counselling session is recommended to record clinical history and draw a family pedigree before the test.
2
During the Test:A blood sample is collected from a vein; if an FTA card is used, one drop of blood is placed on the card and air-dried.
3
After the Test:No restrictions. The sample is sent to the laboratory and the report will be shared once available.

About This Test

Who Should Get This Test

To identify disease-causing variants in the ARX gene in individuals with clinical features suggestive of Partington syndrome or ARX-related neurodevelopmental disorders. This helps confirm the diagnosis, assess carrier status in at-risk family members, and inform genetic counselling and recurrence risk for the family.

How to Prepare

  • Ensure the patient's identity is verified before sample collection
  • Use EDTA vacutainer for whole blood collection
  • Allow FTA card to dry completely before packaging
  • Label the sample clearly with patient name, date of birth, and test name
  • Store and transport sample as per laboratory guidelines

Doctor's Notes

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

"In a male with global developmental delay, epilepsy and dystonic hand postures, ARX-related Partington syndrome should be considered. A targeted NGS test provides an accurate molecular diagnosis and helps the family understand recurrence risk."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs recommended by the laboratory collection kit
ContainerEDTA vacutainer / FTA Card / DNA microvial
Collection MethodVenipuncture or dried blood spot collection

Sample Stability

Room temperature
2-8°C
-20°C or below
Sample Rejection Criteria:
  • Improperly labeled or unlabeled sample
  • Hemolyzed or clotted blood sample
  • Insufficient DNA quantity or very low DNA quality
  • FTA card contaminated or incompletely dried
  • Sample leaking during transport

Understanding Your Results

The result should be interpreted by a qualified clinical geneticist in the context of the patient's clinical features and family history.
📊

Pathogenic or likely pathogenic variant detected

Molecular confirmation of ARX-related Partington syndrome in an affected male; carrier testing is indicated for at-risk female family members.

📊

Variant of uncertain significance detected

The finding cannot be used alone for diagnosis; further family cosegregation analysis or additional testing may be recommended.

📊

No pathogenic variant detected

ARX-related Partington syndrome becomes less likely, but a genetic cause cannot be completely excluded; broader genetic testing may be considered.

⚠️ When to Consult a Doctor:

If a child or adult has unexplained intellectual disability, developmental delay, epilepsy, speech delay, or unusual hand/movement findings, a neurologist or clinical geneticist should be consulted for assessment and genetic testing.

Limitations

  • ⚠NGS may not detect large structural rearrangements or copy number variations in the ARX gene
  • ⚠Deep intronic variants or repeat expansions in other genes are not covered
  • ⚠A variant of uncertain significance may require additional family studies
  • ⚠A negative result does not exclude all genetic causes of intellectual disability
  • ⚠Results must be interpreted in the context of clinical findings and family history

Risks & Considerations

  • ●Minor bruising or discomfort at the venipuncture site
  • ●Light-headedness or fainting during blood collection
  • ●Psychological implications of receiving genetic test results
  • ●Possible implications for other family members

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Sample contamination during collection or handling
  • ●Incorrect sample labeling or mix-up
  • ●Degradation due to prolonged transport at wrong temperature

Compare With Similar Tests

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Frequently Asked Questions

What is the ARX Gene Partington syndrome NGS genetic test cost?
The cost of the ARX Gene Partington syndrome NGS genetic test at DNA Labs India is INR 20,000. Free home sample collection is offered for online bookings in select cities.
Which sample is needed for the ARX gene NGS test?
The test can be performed on a routine blood sample in an EDTA tube, extracted DNA, or one drop of blood applied on an FTA card. No special preparation such as fasting is required.
What is Partington syndrome?
Partington syndrome is a rare X-linked intellectual disability syndrome caused by mutations in the ARX gene. It can affect brain development and is reported more commonly in males, with features that include intellectual disability, speech delay, seizures, movement difficulties, and scoliosis.
What does the NGS test detect?
It detects pathogenic and likely pathogenic variants in the ARX gene by sequencing the coding regions and splice junctions using next-generation sequencing. It does not detect large chromosomal rearrangements or repeat expansions.
Who should take this test?
It may be considered for individuals with unexplained intellectual disability or developmental delay, seizures, speech/language delay, dystonic hand postures, and a family history of X-linked intellectual disability. A neurologist or clinical geneticist can decide whether the test is appropriate.
Is this test recommended for females?
Females are usually carriers of ARX-related disorders and may rarely show mild features. Carrier testing in females can be helpful for reproductive risk assessment and is best performed after genetic counseling.
Do I need to fast before the test?
No, this ARX gene NGS test does not require fasting. Sample collection can be done at any time of day.
How long will the reports take?
The reports are generally issued within 3 to 4 weeks after the sample reaches the laboratory, as the NGS workflow includes sequencing, bioinformatics analysis, variant interpretation, and confirmation.
Is home blood collection available?
Yes, DNA Labs India provides free home sample collection for online bookings for this test across major cities in India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, and many others.
What does X-linked recessive inheritance mean?
In X-linked recessive conditions, the mutated gene is located on the X chromosome. Males have one X chromosome and are more likely to be affected; females have two X chromosomes and can be carriers. An affected male typically inherits the variant from a carrier mother, though de novo variants can also occur.
What are the possible test results?
A result can identify a pathogenic/likely pathogenic ARX variant, a variant of uncertain significance, or no ARX variant. The result should be interpreted in the context of clinical findings and family history.
What should I do after receiving the result?
Discuss the result with the referring doctor or a clinical geneticist. If a mutation is found, genetic counseling is recommended for the patient and at-risk relatives to understand the pattern of inheritance and reproductive options.
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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