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PDE10A Gene Dyskinesia, limb and orofacial, infantile-onset NGS Genetic Test

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PDE10A Gene Dyskinesia, limb and orofacial, infantile-onset NGS Genetic Test

Short Name: PDE10A NGS Genetic Test

Also known as: PDE10A-related infantile dyskinesia, Infantile-onset limb and orofacial dyskinesia, PDE10A gene mutation test, PDE10A dyskinesia genetic testing

PDE10A Gene Dyskinesia, limb and orofacial, infantile-onset 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 Reports are issued within 3 to 4 weeks from the date the sample is received at the laboratory.. Free home collection in 300+ cities across India.

Neurology / Genetic TestInfants and Children🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify pathogenic variants in the PDE10A gene that may cause infantile-onset limb and orofacial dyskinesia. The test helps confirm a clinical diagnosis, enables appropriate medical management, and provides information for genetic counselling and recurrence-risk assessment.

Test Code
4019
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks from the date the sample is received at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Patients or referring clinicians should provide relevant clinical history and any prior genetic testing records. Pre-test genetic counselling is recommended to draw a pedigree chart of family members and discuss the purpose, benefits, and limitations of the test.

Method: Peripheral blood venipuncture or dried blood spot on FTA card

Step 2

Laboratory Analysis

For whole blood, a small volume is collected in an EDTA vacutainer. For FTA card sampling, one drop of blood is spotted onto the card and air-dried. If extracted DNA is submitted, the sample container should be clearly labelled with patient identifiers.

Step 3

Report Delivery

The laboratory sample should be transported according to provided instructions. The patient will be notified once the sample is received, and the final report will be shared in 3 to 4 weeks through the selected delivery mode.

Timeline: Reports are issued within 3 to 4 weeks from the date the sample is received at the laboratory.

Patient Instructions

1
Before the Test:No fasting is needed. A pre-test genetic counselling session is recommended to collect the family history and construct a pedigree chart. Bring any previous genetic testing reports, if available.
2
During the Test:The sample collection is a simple blood draw or FTA card blood spot. There is no requirement to stop any medications unless specifically instructed by the treating clinician.
3
After the Test:Once the sample reaches the laboratory, the test begins. The report is typically issued within 3 to 4 weeks. Results should be discussed with the referring clinician or a genetic counsellor.

About This Test

Who Should Get This Test

To identify pathogenic variants in the PDE10A gene that may cause infantile-onset limb and orofacial dyskinesia. The test helps confirm a clinical diagnosis, enables appropriate medical management, and provides information for genetic counselling and recurrence-risk assessment.

How to Prepare

  • Use EDTA vacutainer for whole blood collection
  • FTA card can be used for one-drop blood collection
  • Extracted DNA must be clearly labelled and supplied with available quality metrics
  • Label all samples with patient name, date of birth, and collection date
  • Maintain recommended temperature during transport

Doctor's Notes

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

"Confirming a molecular diagnosis in an affected child helps the family understand recurrence risk for future pregnancies and supports informed reproductive planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeOne drop blood on FTA card OR extracted DNA sample as provided
ContainerEDTA vacutainer / FTA Card / DNA vial
Collection MethodPeripheral blood venipuncture or dried blood spot on FTA card

Sample Stability

Whole blood in EDTA: stable at ambient temperature for up to 24 hours
Whole blood in EDTA: stable at 2-8°C for up to 48 hours
FTA card blood spot: stable at room temperature for several weeks
Extracted DNA: stable at 2-8°C for short-term storage and -20°C for long-term storage
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Sample collected in a heparin tube
  • Unlabelled or mislabelled sample
  • Insufficient sample quantity
  • Sample subjected to repeated freeze-thaw cycles or extreme heat

Understanding Your Results

This single-gene NGS test is designed to evaluate the PDE10A gene for variants associated with infantile-onset limb and orofacial dyskinesia. The clinical laboratory report will classify any identified variant and provide an interpretive summary based on available scientific evidence and phenotype correlation.
Positive: A pathogenic or likely pathogenic variant was identified in the PDE10A gene. This supports a diagnosis of PDE10A gene dyskinesia in the appropriate clinical context.
Negative: No disease-causing variant was identified in the PDE10A coding region. This reduces, but does not completely exclude, PDE10A-related dyskinesia.
Variant of Uncertain Significance (VUS): A variant was found whose clinical significance is not yet established. Additional family studies and clinical correlation may be recommended.
Carrier / Heterozygous variant: If a heterozygous variant is identified in an affected individual, further reflex testing and clinical interpretation may be required.
⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if the child has involuntary limb, face, or tongue movements, developmental delay, intellectual disability, or a family history of early-onset movement disorder. Also consult after receiving a positive, negative, or uncertain result to understand the medical and reproductive implications.

Limitations

  • ⚠NGS may not detect large structural rearrangements, deep intronic variants, or trinucleotide repeat expansions.
  • ⚠A negative result does not exclude all genetic causes of dyskinesia.
  • ⚠Variants of uncertain significance may require additional family segregation studies.
  • ⚠Test results should always be interpreted along with clinical findings and medical history.

Risks & Considerations

  • ●No significant health risk from a routine blood draw
  • ●Minor bleeding, bruising, or soreness at the needle site
  • ●Rare vasovagal response during blood collection
  • ●No radiation or contrast material exposure

Interfering Factors

  • ●Insufficient or degraded DNA sample
  • ●Maternal cell contamination in blood samples from neonates
  • ●Recent allogeneic blood transfusion can dilute patient-specific nucleated cells
  • ●Sample exposed to extreme temperature during transport
  • ●Sample labelling errors or clot formation

Compare With Similar Tests

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ComparisonPDE10A Gene Dyskinesia, limb and orofacial, infantile-onset NGS Genetic Test

Frequently Asked Questions

What is PDE10A gene dyskinesia, limb and orofacial, infantile-onset?
It is a rare neurological disorder associated with mutations in the PDE10A gene. It causes involuntary movements of the limbs, face and tongue, typically appearing in infancy, along with features such as tremors, stiffness, coordination problems, speech difficulty and intellectual disability.
What is the role of NGS in this test?
Next-generation sequencing is a high-throughput method used to read the PDE10A gene coding region. It helps identify pathogenic variants that can confirm the clinical diagnosis of PDE10A gene dyskinesia.
What is the cost of the PDE10A gene dyskinesia NGS genetic test at DNA Labs India?
The special discounted price is INR 20,000 across India. Home sample collection is free for online bookings.
What sample types are accepted for this test?
Blood, extracted DNA, or one drop of blood on FTA card are accepted. The patient does not need to fast.
Do I need to be fasting for this test?
No, fasting is not required for this NGS genetic test.
How long does it take to get the report?
The report is typically issued in 3 to 4 weeks after the sample is received at the laboratory.
Will I receive raw data, FASTQ and VCF files with the report?
Yes. DNA Labs India provides raw data, FASTQ, and VCF files along with the conclusive clinical report for transparency.
Who should get this test?
The test is recommended for infants or children with unexplained limb or orofacial dyskinesia, tremors, muscle stiffness, speech delay, or intellectual disability where PDE10A-related dyskinesia is suspected.
Is genetic counselling required before the test?
Pre-test genetic counselling is recommended. A clinical history and pedigree chart of affected family members should be prepared to help interpret the test results.
How is the sample collected?
A small amount of peripheral blood is collected in an EDTA tube, or one drop of blood is placed on an FTA card. Alternatively, an extracted DNA sample can be provided.
Can this test be done on an FTA card at home?
Yes, DNA Labs India offers free home sample collection for online bookings, including FTA card blood spot collection, across many major cities in India.
What do the test results mean?
The report will classify any identified variant according to standard guidelines. A pathogenic or likely pathogenic variant supports the diagnosis; a negative result reduces but does not exclude PDE10A-related dyskinesia. Variants of uncertain significance may require further family testing.
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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