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CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia NGS Genetic Test

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CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia NGS Genetic Test

Short Name: CASK Gene NGS Test

Also known as: MICPCH, CASK-related disorders, Mental retardation with microcephaly and pontine hypoplasia

CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia 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. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)All ages, typically diagnosed in infancy or childhood🏠 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 mutations in the CASK gene associated with mental retardation, microcephaly, and pontine and cerebellar hypoplasia, aiding in diagnosis, management, and genetic counseling.

Test Code
1682
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Inform the healthcare provider about any medications or health conditions.

Method: Venipuncture or Saliva Collection

Step 2

Laboratory Analysis

A small blood sample or saliva will be collected by a trained professional with minimal discomfort.

Step 3

Report Delivery

Apply pressure to the puncture site if blood is drawn. Resume normal activities immediately.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor or neurologist to discuss the test, implications, and family history.
2
During the Test:The test involves sample collection and laboratory analysis; no discomfort beyond a routine blood draw.
3
After the Test:Results will be available in 3-4 weeks; follow up with your doctor for interpretation and next steps.

About This Test

Who Should Get This Test

To identify mutations in the CASK gene associated with mental retardation, microcephaly, and pontine and cerebellar hypoplasia, aiding in diagnosis, management, and genetic counseling.

How to Prepare

  • No fasting required unless specified
  • Avoid eating or drinking for 30 minutes before saliva collection
  • Bring identification and doctor's referral

Doctor's Notes

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

"Genetic testing like NGS for CASK gene is essential for accurate diagnosis, prognosis, and informed family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml blood
ContainerStandard blood collection tube
Collection MethodVenipuncture or Saliva Collection

Sample Stability

Room temperature24 hours for blood
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated sample
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the CASK gene, aiding in diagnosis.
📊

Positive

Pathogenic variant detected, consistent with diagnosis

📊

Negative

No pathogenic variants detected, clinical correlation needed

📊

Variant of uncertain significance

Further testing or family studies recommended

⚠️ When to Consult a Doctor:

If symptoms such as intellectual disability, microcephaly, or neurological issues are present, consult a neurologist or geneticist promptly.

Limitations

  • ⚠May not detect all types of variants
  • ⚠Results require clinical correlation
  • ⚠Does not rule out other genetic causes

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Psychological impact of results
  • ●Potential insurance implications

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA

Compare With Similar Tests

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ComparisonCASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia NGS Genetic Test

Frequently Asked Questions

What is the CASK Gene NGS Genetic Test?
It is a next-generation sequencing test to detect mutations in the CASK gene associated with mental retardation, microcephaly, and pontine and cerebellar hypoplasia.
Who should consider taking this test?
Individuals with symptoms like intellectual disability, delayed speech, microcephaly, seizures, or a family history of similar neurological disorders.
How is the test performed?
A blood or saliva sample is collected and analyzed using NGS technology to identify gene variants.
What is the cost of the test?
The test costs INR 20000.0, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home collection for this test in multiple cities.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do positive results mean?
Positive results indicate a pathogenic variant in the CASK gene, confirming diagnosis and aiding in management.
Can this test be done during pregnancy?
Consult a genetic counselor or physician for prenatal testing options and implications.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, with potential psychological impacts from results.
How accurate is the test?
NGS technology ensures high accuracy, but results require clinical correlation and genetic counseling.
What is the role of genetic counseling?
Genetic counseling helps interpret results, discuss implications, and plan for family or treatment decisions.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. DNA Labs India offers schemes like PMJAY, but verification is needed.
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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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