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ASPM Gene Microcephaly, autosomal recessive type 5 NGS Genetic Test

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ASPM Gene Microcephaly, autosomal recessive type 5 NGS Genetic Test

Short Name: ASPM Gene Microcephaly NGS Test

Also known as: MCPH5, Autosomal Recessive Primary Microcephaly 5, ASPM-related Microcephaly

ASPM Gene Microcephaly, autosomal recessive type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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.

PediatricsPediatric🏠 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 ASPM gene for definitive diagnosis of autosomal recessive microcephaly type 5, aiding in clinical management, genetic counseling, and family risk assessment.

Test Code
2773
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
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

No specific preparation required. Ensure clinical history and genetic counseling are completed.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist. For FTA card, a single drop of blood is applied.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as per instructions before transport.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw a pedigree chart.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Report generation and delivery, followed by genetic counseling for result interpretation.

About This Test

Who Should Get This Test

To identify mutations in the ASPM gene for definitive diagnosis of autosomal recessive microcephaly type 5, aiding in clinical management, genetic counseling, and family risk assessment.

How to Prepare

  • Use sterile equipment for blood collection
  • Label samples correctly with patient details
  • Transport samples at ambient room temperature
  • Avoid hemolysis during collection

Doctor's Notes

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

"Genetic testing for ASPM gene mutations is crucial for confirming diagnosis in suspected cases of autosomal recessive microcephaly, enabling early intervention and informed family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrect labeling or missing patient information

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the ASPM gene. Positive results confirm diagnosis, while negative results may require further testing or clinical correlation.
Positive: Pathogenic variant detected - confirms ASPM gene microcephaly
Negative: No pathogenic variants detected - does not rule out other genetic causes
Variant of uncertain significance (VUS) - requires further evaluation and genetic counseling
⚠️ When to Consult a Doctor:

If symptoms of microcephaly, intellectual disability, or developmental delays are present, or if there is a family history of genetic disorders. Consult a geneticist or pediatrician for comprehensive evaluation.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
  • ⚠Requires genetic counseling for result interpretation
  • ⚠Not suitable for prenatal diagnosis without additional validation

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results, mitigated by counseling

Interfering Factors

  • ●Sample contamination during collection or processing
  • ●Degraded DNA quality
  • ●Insufficient sample volume

Compare With Similar Tests

TestASPM Gene Microcephaly, autosomal recessive type 5 NGS Genetic TestMicrocephaly NGS PanelWhole Exome Sequencing
ComparisonASPM Gene Microcephaly, autosomal recessive type 5 NGS Genetic Test

Frequently Asked Questions

What is ASPM Gene Microcephaly?
It is a rare genetic disorder caused by mutations in the ASPM gene, leading to reduced head size and brain development issues.
How is the NGS genetic test performed?
The test uses Next-Generation Sequencing to analyze the ASPM gene from a blood or DNA sample, identifying mutations.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available?
Yes, free home collection is offered for online bookings across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
Results indicate if pathogenic mutations are present in the ASPM gene, confirming diagnosis. Genetic counseling is provided for interpretation.
Is genetic counseling included?
Yes, a genetic counseling session is part of the pre-test and post-test process to discuss implications and results.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis. Prenatal testing may require additional validation and counseling.
What are the risks of the test?
Risks are minimal, mainly related to blood draw, such as bruising. Psychological support is available through counseling.
How accurate is the NGS test?
NGS is highly accurate for detecting mutations in the ASPM gene, but no test is 100% infallible. Results are validated by geneticists.
Is the test covered by insurance?
Coverage varies by insurance plan. It is advisable to check with your provider for specific details.
What should I do if the test is positive?
Consult a healthcare provider or geneticist for management options, genetic counseling, and family planning guidance.
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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