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FOXP1 Gene Mental retardation with language impairment and autistic features NGS Genetic Test

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FOXP1 Gene Mental retardation with language impairment and autistic features NGS Genetic Test

Short Name: FOXP1 NGS Genetic Test

Also known as: FOXP1 Syndrome, FOXP1-Related Intellectual Disability Syndrome, Mental Retardation with Language Impairment and Autistic Features due to FOXP1

FOXP1 Gene Mental retardation with language impairment and autistic features NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, extracted DNA, or one drop blood on FTA card samples. Results in 3 to 4 weeks after sample receipt at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll age groups (especially children)🏠 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

The purpose of this test is to detect pathogenic sequence variants in FOXP1 in individuals with intellectual disability, language impairment, autistic features, and related neurodevelopmental signs. It is also used for family recurrence-risk assessment and to aid reproductive planning.

Test Code
4220
Price
₹20,000
Sample Type
Blood, extracted DNA, or one drop blood on FTA card
Result Time
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. The patient must undergo a pre-test genetic counselling session where a detailed family history and pedigree are documented. The treating physician should provide the clinical history of the patient. Sample labelling and consent forms must be complete before collection.

Method: Blood draw, FTA card spot, or extracted DNA submission

Step 2

Laboratory Analysis

Blood collection by venepuncture will be performed; for infants, one drop of blood can be collected on an FTA card. If extracted DNA is submitted, it should be stored at the appropriate temperature. The collection process takes only a few minutes.

Step 3

Report Delivery

There are no restrictions after sample collection. The blood, FTA card, or extracted DNA sample will be transported to the laboratory. Reports are expected in 3 to 4 weeks, and the patient will be notified when the report is ready.

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

Patient Instructions

1
Before the Test:Attend pre-test genetic counselling, complete clinical history and pedigree documentation, and confirm sample collection booking. No fasting is needed.
2
During the Test:The phlebotomist will collect blood or an FTA card sample. For children, parents can be present to keep the child calm.
3
After the Test:No special care is needed. The sample will be processed in the laboratory and reports will be shared in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic sequence variants in FOXP1 in individuals with intellectual disability, language impairment, autistic features, and related neurodevelopmental signs. It is also used for family recurrence-risk assessment and to aid reproductive planning.

How to Prepare

  • No fasting is required.
  • Children should remain comfortable and calm during sample collection.
  • If using an FTA card, apply one drop of blood and allow it to dry completely.
  • Clearly label the sample with the patient's full name and date of birth.

Doctor's Notes

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

"FOXP1 NGS testing should be requested after a detailed clinical evaluation by a paediatric neurologist or child development specialist. As part of the genetics team, the obstetrics and gynaecology specialist helps families understand recurrence risk and reproductive options once the FOXP1 variant is identified."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, extracted DNA, or one drop blood on FTA card
Sample VolumeAs per DNA Labs India collection kit instructions
ContainerEDTA vacutainer for blood; FTA card for blood spot; sterile tube for extracted DNA
Collection MethodBlood draw, FTA card spot, or extracted DNA submission

Sample Stability

Blood in EDTA should reach the laboratory within 24 to 72 hours of collection.
FTA card should be stored in a dry container at room temperature after drying.
Extracted DNA should be stored at -20°C or colder if transport is delayed.
Sample Rejection Criteria:
  • Unlabelled or mislabelled sample
  • Inadequate quantity of blood or DNA
  • Clotted blood sample
  • Damaged or wet FTA card
  • Sample received without consent or clinical history forms

Understanding Your Results

The clinical report classifies FOXP1 sequence variants using standard genetics guidelines. Variants are reported as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign.
Pathogenic or likely pathogenic variant: confirms the molecular diagnosis; clinical correlation is required.
Variant of uncertain significance: not diagnostic; additional family segregation studies may be useful.
No pathogenic variant detected: does not exclude FOXP1-related disorder; other genetic or non-genetic causes should be considered.
⚠️ When to Consult a Doctor:

Consult a clinical geneticist or neurodevelopmental paediatrician if a pathogenic variant is found, if a variant of uncertain significance is reported, or if the test is negative but symptoms continue to point toward a genetic cause.

Limitations

  • ⚠This targeted NGS test detects single nucleotide variants and small insertions/deletions in the FOXP1 coding and splice regions.
  • ⚠Large exon-level deletions or duplications, structural rearrangements, deep intronic variants and regulatory variants may not be detected.
  • ⚠A variant of uncertain significance may require additional family studies.
  • ⚠A negative result does not exclude other genetic or non-genetic causes of developmental delay.

Risks & Considerations

  • ●Mild pain or discomfort during blood collection
  • ●Small bruise or bleeding at the puncture site
  • ●Rare risk of infection
  • ●Psychological impact of receiving genetic results

Interfering Factors

  • ●Insufficient or degraded DNA
  • ●Sample mix-up or mislabelling
  • ●Incomplete clinical history or pedigree information
  • ●Variant located outside the tested coding and splice regions
  • ●Low NGS coverage in specific gene regions

Compare With Similar Tests

TestFOXP1 Gene Mental retardation with language impairment and autistic features NGS Genetic TestFOXP1 Single Gene NGS TestIntellectual Disability NGS PanelChromosomal MicroarrayFragile X Genetic Test
ComparisonFOXP1 Gene Mental retardation with language impairment and autistic features NGS Genetic Test

Frequently Asked Questions

What is the FOXP1 gene NGS genetic test?
The FOXP1 NGS genetic test is a targeted next-generation sequencing test that analyses the FOXP1 gene for mutations linked to mental retardation (intellectual disability), language impairment and autistic features. It helps confirm a clinical suspicion of FOXP1-related neurodevelopmental disorder.
What is the cost of the FOXP1 NGS genetic test at DNA Labs India?
The test price is Rs 20000.0 across India. DNA Labs India also provides free home sample collection in major cities for online bookings.
What sample is needed for this genetic test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card. No fasting is required.
How long does the report take?
Reports are available in 3 to 4 weeks after the sample reaches the laboratory.
Which children should be tested?
Children with global developmental delay, intellectual disability, delayed or absent speech, autistic features, poor eye contact, repetitive behaviours or learning difficulties may benefit from this test after clinical evaluation and genetic counselling.
What variants can this NGS test detect?
The test detects small sequence variants such as single nucleotide changes and small insertions/deletions in the coding and splice regions of FOXP1. Large deletions, structural rearrangements and deep intronic variants may not be identified by this targeted NGS test.
How are the results interpreted?
If a pathogenic or likely pathogenic variant is found, it confirms a molecular diagnosis. A variant of uncertain significance needs further family studies. If no pathogenic variant is found, it does not completely rule out FOXP1-related disorder or other genetic causes.
Why is genetic counselling required before this test?
Genetic counselling helps document the family pedigree, explain the benefits and limitations of NGS testing, discuss recurrence risks and obtain informed consent. This improves test interpretation and clinical decision-making.
Does DNA Labs India provide raw data with the report?
Yes. DNA Labs India provides raw data, FASTQ and VCF files along with the conclusive clinical report for this FOXP1 NGS genetic test.
Is the test covered under government insurance schemes?
At present this test is not routinely covered by PMJAY, CGHS, ECHS or ESIC. Private insurance coverage depends on the policy and the treating doctor's recommendation. Please confirm with your insurer before testing.
Can this test be done on an adult?
Yes, the test can be done at any age. In adults, it may be useful for diagnostic clarification or reproductive planning, particularly if there is a family history of FOXP1-related neurodevelopmental disorder.
What should I do after receiving the result?
Share the report with your clinical geneticist, paediatrician or neurologist. They will explain the medical implications, recommend appropriate therapies and discuss the recurrence risk for other family members.
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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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.

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