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MCPH1 Gene Microcephaly, autosomal recessive type 1 NGS Genetic Test

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MCPH1 Gene Microcephaly, autosomal recessive type 1 NGS Genetic Test

Short Name: MCPH1 NGS Test

Also known as: MCPH1 Gene Sequencing, Primary Microcephaly Type 1 Genetic Test, Autosomal Recessive Microcephaly NGS Panel

MCPH1 Gene Microcephaly, autosomal recessive type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger sequencing for variant confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are delivered within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS (Next-Generation Sequencing)Pediatric, Adult🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to confirm a clinical diagnosis of MCPH1-related microcephaly by identifying pathogenic mutations in the MCPH1 gene. It helps in establishing the genetic etiology, enabling accurate prognosis, recurrence risk assessment, and informed family planning decisions.

Test Code
5854
CPT Code
81407
ICD Code
Q02
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger sequencing for variant confirmation
Step 1

Sample Collection

No special preparation required. However, a genetic counseling session is recommended prior to testing to discuss implications.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

Blood sample is collected by venipuncture or via FTA card blood spot. The procedure is quick and minimally invasive.

Step 3

Report Delivery

No specific aftercare required. The sample is sent to the laboratory for analysis.

Timeline: Reports are delivered within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:A genetic counseling session is recommended to discuss the purpose, risks, and implications of the test. The counselor will draw a pedigree chart to assess inheritance patterns.
2
During the Test:The test involves a simple blood draw or FTA card sample. No sedation or special preparation is needed.
3
After the Test:Results are typically available in 3-4 weeks. A genetic counselor will explain the results and discuss next steps.

About This Test

Who Should Get This Test

The purpose of this test is to confirm a clinical diagnosis of MCPH1-related microcephaly by identifying pathogenic mutations in the MCPH1 gene. It helps in establishing the genetic etiology, enabling accurate prognosis, recurrence risk assessment, and informed family planning decisions.

How to Prepare

  • For blood sample: Use EDTA vacutainer, fill to indicated mark, mix gently.
  • For FTA card: Apply one drop of blood onto the designated circle, allow to air dry.
  • Label the sample with patient name, date of birth, and collection date.
  • Transport at ambient temperature (15-30°C) to the laboratory.

Doctor's Notes

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

"Early genetic confirmation of MCPH1-related microcephaly is crucial for accurate prognosis, family counseling, and management planning. NGS provides comprehensive detection of mutations in the MCPH1 gene."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 drop on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Blood in EDTA: 7 days at 2-8°C, 24 hours at ambient temperature
FTA card: Stable for months at room temperature
Extracted DNA: Stable for years at -20°C
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Clotted blood sample
  • Insufficient sample volume
  • Improper labeling
  • Sample received after prolonged transit time without proper storage

Understanding Your Results

The test report will indicate whether a pathogenic variant was identified in the MCPH1 gene. If a variant is found, the report will specify the variant type, zygosity, and clinical significance.
📊

Positive (pathogenic variant detected)

Confirms diagnosis of MCPH1-related microcephaly. Autosomal recessive inheritance; both parents are carriers. Recurrence risk for siblings is 25%.

📊

Negative (no pathogenic variant)

MCPH1 gene mutation not identified. Other genetic or non-genetic causes should be considered.

📊

Variant of uncertain significance (VUS)

A genetic variant was found but its clinical significance is unknown. Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If your child has been diagnosed with microcephaly or shows signs of developmental delay, consult a pediatric neurologist or clinical geneticist for evaluation and genetic testing.

Limitations

  • ⚠This test only analyzes the MCPH1 gene; other genetic causes of microcephaly are not evaluated.
  • ⚠NGS may not detect large deletions/duplications or deep intronic variants; additional testing may be required.
  • ⚠Variant interpretation may be limited by current scientific knowledge.
  • ⚠Test does not assess non-genetic causes of microcephaly (e.g., infections, toxins).

Risks & Considerations

  • ●Bruising or discomfort at the blood draw site
  • ●Psychological impact of genetic results
  • ●Potential for variants of uncertain significance causing anxiety

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Contamination during sample collection
  • ●Presence of maternal cell contamination in prenatal samples
  • ●Rare variants of uncertain significance may require additional testing

Compare With Similar Tests

TestMCPH1 Gene Microcephaly, autosomal recessive type 1 NGS Genetic TestMicrocephaly NGS Panel (Multiple Genes)Chromosomal Microarray (CMA)Karyotype Analysis
ComparisonMCPH1 Gene Microcephaly, autosomal recessive type 1 NGS Genetic Test

Frequently Asked Questions

What is MCPH1 gene microcephaly?
MCPH1 gene microcephaly is a rare genetic condition caused by mutations in the MCPH1 gene, leading to autosomal recessive primary microcephaly type 1. It is characterized by a significantly reduced head circumference and brain size, often accompanied by developmental delays and intellectual disability.
How is MCPH1 gene microcephaly diagnosed?
Diagnosis is confirmed through genetic testing, typically using NGS to sequence the MCPH1 gene and identify pathogenic mutations. Clinical evaluation of head circumference and neurological symptoms also supports the diagnosis.
What is the cost of the MCPH1 NGS genetic test in India?
At DNA Labs India, the cost is INR 20,000. This includes genetic counseling, NGS sequencing, bioinformatics analysis, and a comprehensive clinical report. Free home sample collection is available across major cities.
What sample is required for the test?
The test requires either a blood sample (2-3 ml in EDTA tube), extracted DNA, or one drop of blood on an FTA card. The sample can be collected at home or at a DNA Labs India collection center.
How long does it take to get the results?
The turnaround time is 3 to 4 weeks from the date of sample receipt at the laboratory.
Is fasting required before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
Will I receive raw data files with the report?
Yes, DNA Labs India is transparent and provides raw data files (FASTQ, VCF) along with the clinical report. This allows verification and future re-analysis if needed.
Is the test covered by insurance?
Genetic testing may not always be covered by insurance. We recommend checking with your insurance provider to determine coverage. DNA Labs India offers the test at a discounted price of INR 20,000.
Can the test be done during pregnancy?
Yes, prenatal testing can be performed using appropriate samples (e.g., amniotic fluid or chorionic villus) if there is a known family history. This requires prior genetic counseling and is done under specialist guidance.
What does a positive result mean?
A positive result indicates the presence of a pathogenic mutation in the MCPH1 gene, confirming the diagnosis of MCPH1-related microcephaly. It also implies autosomal recessive inheritance, with a 25% recurrence risk for future siblings.
What if the result is negative?
A negative result means no pathogenic mutation was found in the MCPH1 gene. However, other genetic or non-genetic causes of microcephaly should be considered, and further testing may be recommended.
How can I book the test?
You can book the test online through our website or by calling our customer care. We offer free home sample collection in over 200 cities across India.
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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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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