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DOCK8 Gene Mental retardation, autosomal dominant type 2 NGS Genetic Test

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DOCK8 Gene Mental retardation, autosomal dominant type 2 NGS Genetic Test

Short Name: DOCK8 NGS Test

Also known as: DOCK8 Gene Mutation Analysis, DOCK8 Gene NGS Test, Autosomal Dominant Mental Retardation Type 2 Genetic Test, DOCK8 Gene Sequencing

DOCK8 Gene Mental retardation, autosomal dominant type 2 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 available within 3 to 4 weeks after the sample reaches the laboratory. The report will be uploaded to the online portal and also sent via email and WhatsApp.. Free home collection in 300+ cities across India.

Genetic TestingAll age groups🏠 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 NGS genetic test is to detect pathogenic variants in the DOCK8 gene in individuals with clinical features suggestive of autosomal dominant type 2 mental retardation. A definitive molecular diagnosis can help guide medical management, reproductive planning, and family counselling.

Test Code
4237
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are available within 3 to 4 weeks after the sample reaches the laboratory. The report will be uploaded to the online portal and also sent via email and WhatsApp.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counselling session and clinical history documentation are required before sample collection. Please bring previous medical records, imaging reports, and family history details to the appointment.

Method: Peripheral blood draw or FTA blood spot

Step 2

Laboratory Analysis

A small blood sample is collected from the arm by a trained phlebotomist. If an FTA card is used, one drop of blood is placed on the card and allowed to dry.

Step 3

Report Delivery

No special precautions are needed. You may continue routine diet and medications unless advised otherwise. The sample will be transported to the laboratory for DNA extraction and NGS analysis.

Timeline: Reports are available within 3 to 4 weeks after the sample reaches the laboratory. The report will be uploaded to the online portal and also sent via email and WhatsApp.

Patient Instructions

1
Before the Test:No special preparation is required. A pre-test genetic counselling session will be arranged to review clinical history and document the family pedigree.
2
During the Test:Blood is collected in an EDTA tube. The patient may feel a brief needle prick. The entire blood collection procedure takes only a few minutes.
3
After the Test:Resume normal activities immediately. The laboratory will process the sample and share the report within three to four weeks.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect pathogenic variants in the DOCK8 gene in individuals with clinical features suggestive of autosomal dominant type 2 mental retardation. A definitive molecular diagnosis can help guide medical management, reproductive planning, and family counselling.

How to Prepare

  • Provide the clinical history and referral form at the time of sample collection
  • Ensure the sample tube or FTA card is correctly labelled with patient name and unique identification number
  • For FTA card, allow the blood spot to dry completely before packing
  • Do not refrigerate or freeze FTA cards

Doctor's Notes

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

"DOCK8-related neurodevelopmental features overlap with several forms of intellectual disability. Genetic test results should always be correlated with careful dysmorphology and neurological assessment before final diagnosis."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeWhole blood: 2-3 ml / Extracted DNA: as required / FTA card: one blood spot
ContainerEDTA vacutainer / sterile DNA vial / FTA card
Collection MethodPeripheral blood draw or FTA blood spot

Sample Stability

Whole blood in EDTA: 7 days at 2-8 degree Celsius
Extracted DNA: 30 days at -20 degree Celsius
FTA blood spot: several months at room temperature when stored dry
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Incorrectly labelled sample
  • Missing patient consent or clinical indication
  • Improper storage or transport causing DNA degradation

Understanding Your Results

The molecular report should be interpreted by a clinical geneticist or genetic counsellor. Variants are classified using published ACMG guidelines and interpreted in the context of the patient's clinical presentation and family history.
Positive result: A pathogenic or likely pathogenic variant in the DOCK8 gene is detected. Clinical correlation is required for diagnosis.
Negative result: No pathogenic DOCK8 gene variant was detected in the analysed regions. This does not exclude all genetic or non-genetic causes of intellectual disability.
Variant of uncertain significance: A gene variant was identified but its clinical significance is not yet clear. Additional family testing may be recommended.
Carrier or segregation result: In an autosomal dominant disorder, parental testing is useful to determine whether the variant arose de novo or was inherited.
⚠️ When to Consult a Doctor:

Consult a clinical geneticist or neurologist if the test is positive, if a variant of uncertain significance is reported, or if symptoms persist despite a negative test result. Genetic counselling may also be useful for family planning and risk assessment.

Limitations

  • ⚠NGS may not detect large structural rearrangements, trinucleotide repeat expansions, or deep intronic pathogenic variants
  • ⚠A negative result does not exclude all genetic causes of intellectual disability
  • ⚠Variants of uncertain significance may require additional family studies
  • ⚠All clinically significant variants should be confirmed by Sanger sequencing or another orthogonal method when appropriate

Risks & Considerations

  • ●Mild pain or bruising at the blood collection site
  • ●Rare risk of local infection
  • ●Potential psychological impact of receiving a genetic diagnosis

Interfering Factors

  • ●Very low DNA quality or quantity may cause amplification failure
  • ●Contamination during sample collection or DNA extraction can affect results
  • ●Recent allogeneic bone marrow or stem cell transplant may affect blood-derived DNA results
  • ●Unknown variants outside the covered coding and splice-site regions may not be detected

Compare With Similar Tests

TestDOCK8 Gene Mental retardation, autosomal dominant type 2 NGS Genetic TestDOCK8 Gene NGSSanger SequencingChromosomal Microarray
ComparisonDOCK8 Gene Mental retardation, autosomal dominant type 2 NGS Genetic Test

Frequently Asked Questions

What is DOCK8 gene mental retardation autosomal dominant type 2?
It is a genetic condition linked to pathogenic variants in the DOCK8 gene. The condition may cause intellectual disability, speech and language delay, behavioural abnormalities, seizures, and variable physical features.
What is the cost of the DOCK8 gene NGS genetic test in India?
The test cost is special discounted price of INR 20000 across India. The final price may vary by laboratory and any additional tests advised by the clinician.
What type of sample is required for this DOCK8 NGS test?
The test can be performed on whole blood, extracted DNA, or one drop of blood applied to an FTA card. EDTA blood is the most common sample type.
Is fasting required before the DOCK8 NGS genetic test?
No, fasting is not required for this genetic test. The sample can be collected at any time of the day.
Why is NGS technology used for this test?
NGS can analyse the DOCK8 gene quickly and accurately in a single reaction. It is efficient for detecting point mutations and small insertions or deletions in the coding and splice-site regions.
How long will the report take?
The report is generally available within 3 to 4 weeks after the sample reaches the laboratory.
What does a positive DOCK8 NGS result mean?
A positive result means a pathogenic or likely pathogenic variant in the DOCK8 gene was detected. This supports the clinical diagnosis and helps guide management and family counselling.
What does a negative DOCK8 NGS result mean?
A negative result means no pathogenic DOCK8 variant was detected in the analysed regions. It does not completely exclude DOCK8-related disease because certain mutation types may not be detected by this NGS method.
Is genetic counselling included before the test?
Yes, pre-test genetic counselling is an important part of this test. A counselling session is arranged to document clinical history and draw a family pedigree.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings of this test in many cities across India.
Who should order this test?
This test is usually ordered by a neurologist, clinical geneticist, or paediatric neurologist for a patient with intellectual disability, speech delay, seizures, or a family history of DOCK8-related disorder.
Can this test detect all inherited causes of mental retardation?
No. This test only analyses the DOCK8 gene. If broader genetic causes are suspected, whole exome sequencing or a multigene intellectual disability panel may be more appropriate.
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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