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AP1S2 Gene Mental retardation, X-linked type 59 NGS Genetic Test

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AP1S2 Gene Mental retardation, X-linked type 59 NGS Genetic Test

Short Name: AP1S2 NGS Genetic Test

Also known as: MRX59, AP1S2-related intellectual disability, X-linked intellectual disability type 59

AP1S2 Gene Mental retardation, X-linked type 59 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 Samples are processed over 3 to 4 weeks after reaching the laboratory.. Free home collection in 300+ cities across India.

GeneticAll 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

This test is intended to confirm a clinical diagnosis of AP1S2-related X-linked mental retardation type 59, to identify carrier females in affected families, and to provide essential information for genetic counselling and recurrence-risk assessment.

Test Code
4279
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Samples are processed over 3 to 4 weeks after reaching the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation or fasting is required. A pre-test genetic counselling session is recommended to understand the purpose, process and implications of the test.

Method: Venipuncture or finger-prick blood spot

Step 2

Laboratory Analysis

During collection, a 2-3 ml blood sample is drawn into an EDTA tube by venipuncture. Alternatively, a few drops of blood can be placed on an FTA card from a finger-prick. The collected sample is labelled and sent to the laboratory.

Step 3

Report Delivery

No restrictions are required after sample collection. The patient may resume normal activities immediately.

Timeline: Samples are processed over 3 to 4 weeks after reaching the laboratory.

Patient Instructions

1
Before the Test:No preparation needed. Attend genetic counselling session if scheduled.
2
During the Test:Sample collection will be done by a trained professional. It takes only a few minutes.
3
After the Test:No special care is required. Wait for the report to be shared in 3-4 weeks.

About This Test

Who Should Get This Test

This test is intended to confirm a clinical diagnosis of AP1S2-related X-linked mental retardation type 59, to identify carrier females in affected families, and to provide essential information for genetic counselling and recurrence-risk assessment.

How to Prepare

  • Sample to be collected in EDTA tube or on FTA card
  • Avoid sample contamination
  • Label the sample clearly with patient ID
  • Transport sample at ambient room temperature

Doctor's Notes

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

"Genetic testing for AP1S2 gene mutations aids in accurate diagnosis, allows carrier detection, and supports informed reproductive decisions for families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeNot specified
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick blood spot

Sample Stability

Blood in EDTA tube: 24-48 hours at room temperature
Extracted DNA: stable for months at -20°C
FTA card: stable for several weeks at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood
  • Sample without proper labelling
  • Sample received in broken/leaked container
  • Insufficient sample quantity

Understanding Your Results

This genetic test helps identify pathogenic variants in the AP1S2 gene. The interpretation is based on the presence or absence of clinically significant variants and is correlated with the clinical information provided.
Positive: A pathogenic or likely pathogenic variant in AP1S2 is detected, confirming the diagnosis of MRX59.
Negative: No pathogenic variants are identified, reducing the likelihood of AP1S2-related disorder but not fully excluding it.
Variant of Uncertain Significance (VUS): A genetic variant with unknown clinical significance is found; further segregation analysis or functional studies may be required.
⚠️ When to Consult a Doctor:

If your test result is positive, it is recommended to consult a clinical geneticist for detailed counselling and management. A positive result also has implications for other family members; carrier testing and prenatal testing should be discussed.

Limitations

  • ⚠This test only evaluates the AP1S2 gene; it does not rule out other genetic causes of intellectual disability.
  • ⚠NGS may not reliably detect large deletions/duplications, deep intronic mutations, or repeat expansions.
  • ⚠Results may identify variants of uncertain significance which require further evaluation.
  • ⚠A negative result does not completely exclude the possibility of an AP1S2-related disorder if the phenotype is highly suggestive.

Risks & Considerations

  • ●Minor bruising at blood collection site
  • ●Fainting or dizziness during blood draw (rare)
  • ●Very small risk of infection (rare)

Interfering Factors

  • ●Sample mix-up due to mislabeling
  • ●DNA contamination from another source
  • ●Degraded DNA due to improper transport or storage

Frequently Asked Questions

What is the AP1S2 gene and what is its role?
The AP1S2 gene is located on the X chromosome and provides instructions for making a subunit of the adaptor protein complex 1, which is involved in protein sorting and intracellular transport. Mutations in this gene are associated with X-linked mental retardation type 59.
What is X-linked mental retardation type 59?
MRX59 is a genetic condition caused by mutations in the AP1S2 gene. It is inherited in an X-linked pattern and is characterised by intellectual disability, speech delay, and behavioural issues.
Who should consider this NGS genetic test?
This test is recommended for individuals with unexplained intellectual disability or developmental delay, particularly males with X-linked family history, and for carriers in affected families.
What sample is needed for the test?
The test can be performed on whole blood (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, this is a DNA-based test and does not require fasting.
How is the test performed?
Next-generation sequencing is used to analyse the coding regions and splice sites of the AP1S2 gene for disease-causing variants.
What is the cost of the test?
The test costs INR 20,000, which includes home sample collection and genetic counselling.
How long will it take to get the report?
Reports are issued within 3 to 4 weeks after the sample is received by the laboratory.
What does a positive result mean?
A positive result indicates a pathogenic or likely pathogenic variant in AP1S2 is present, confirming the diagnosis of MRX59.
What does a negative result mean?
A negative result means no clinically significant variants were found in the AP1S2 gene. It does not completely exclude the condition if clinical suspicion is high.
Does this test detect all causes of intellectual disability?
No, this test is specific to AP1S2-related X-linked mental retardation type 59. Other genetic and non-genetic causes are not covered.
Does DNA Labs India provide genetic counselling?
Yes, the test includes a genetic counselling session where a pedigree chart is drawn and the results are explained with implications for the patient and family.
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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