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STAMBP Gene Microcephaly-capillary malformation syndrome NGS Genetic Test

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STAMBP Gene Microcephaly-capillary malformation syndrome NGS Genetic Test

Short Name: STAMBP NGS Test

Also known as: Microcephaly-Capillary Malformation Syndrome NGS Test, STAMBP Gene Sequencing, MIC-CAP Genetic Test

STAMBP Gene Microcephaly-capillary malformation syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, Saliva, or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt. Delays may occur if repeat testing or additional variant confirmation is necessary.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 confirm or rule out a diagnosis of STAMBP-related Microcephaly-Capillary Malformation Syndrome (MIC-CAP) by identifying pathogenic variants in the STAMBP gene, enabling early intervention, management, and genetic counselling.

Test Code
4291
Price
₹20,000
Sample Type
Blood, Extracted DNA, Saliva, or One drop Blood on FTA Card
Result Time
Results are typically available within 3 to 4 weeks from the date of sample receipt. Delays may occur if repeat testing or additional variant confirmation is necessary.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Please provide a referral or clinical history. A genetic counselling session to draw a pedigree chart is recommended prior to sample collection.

Method: Peripheral blood draw, extracted DNA submission, saliva collection, or FTA card spot

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in your arm, or you may provide a saliva sample, extracted DNA, or a few drops of blood placed on an FTA card. The procedure is quick and minimally invasive.

Step 3

Report Delivery

You may resume normal activities immediately. No post-collection restrictions are necessary.

Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt. Delays may occur if repeat testing or additional variant confirmation is necessary.

Patient Instructions

1
Before the Test:A genetic counselling session is recommended to discuss the purpose, limitations, and potential outcomes of the test. The patient or guardian must provide informed consent.
2
During the Test:A peripheral blood sample or saliva sample is collected. For FTA cards, a simple finger-prick or heel-prick blood spot may be used. The sample is then securely transported to the laboratory for analysis.
3
After the Test:You will receive a comprehensive clinical report and raw data files once the analysis is completed. A follow-up counselling session may be arranged to explain the results and discuss the next steps.

About This Test

Who Should Get This Test

To confirm or rule out a diagnosis of STAMBP-related Microcephaly-Capillary Malformation Syndrome (MIC-CAP) by identifying pathogenic variants in the STAMBP gene, enabling early intervention, management, and genetic counselling.

How to Prepare

  • Carry a valid doctor's referral or requisition form
  • Ensure the sample is clearly labeled with your name and date of birth
  • For FTA card samples, let the blood air dry completely before sealing in the provided pouch
  • Samples should be stored at room temperature and dispatched promptly to the laboratory

Doctor's Notes

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

"Genetic testing for MIC-CAP is crucial for accurate diagnosis, family counselling and reproductive planning. Early molecular confirmation enables timely multidisciplinary care and surveillance."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, Saliva, or One drop Blood on FTA Card
Sample VolumeAs required for analysis
ContainerEDTA tube (for blood) / sterile tube (for DNA) / FTA card
Collection MethodPeripheral blood draw, extracted DNA submission, saliva collection, or FTA card spot

Sample Stability

Whole blood: 24 hours at room temperature (EDTA tube)
Extracted DNA: up to 7 days at 2-8°C
Saliva: 48 hours at room temperature
FTA card: stable for several weeks at room temperature
Sample Rejection Criteria:
  • Hemolysed or clotted blood sample
  • Insufficient sample quantity
  • Improper or missing labeling
  • Sample received without clinical history or consent

Understanding Your Results

Interpretation of STAMBP gene NGS results should be performed by a qualified clinical geneticist. The detection of a pathogenic or likely pathogenic variant confirms a molecular diagnosis of MIC-CAP in the appropriate clinical context. A negative result does not completely exclude MIC-CAP if clinical suspicion remains high; further genetic testing may be considered.
📊

Pathogenic variant detected

Confirms the diagnosis of STAMBP-related MIC-CAP. Genetic counselling is advised for the individual and family.

📊

Likely pathogenic variant detected

Highly suggestive of disease. Additional evidence or family segregation may be helpful to confirm.

📊

Variant of uncertain significance (VUS)

No definitive clinical interpretation. Additional testing in family members or functional studies may be required.

📊

No pathogenic variant in STAMBP

MIC-CAP due to STAMBP mutation is less likely. Consider broader genetic testing (microcephaly panel or whole exome sequencing) if clinical suspicion persists.

⚠️ When to Consult a Doctor:

Consult your referring physician or a clinical geneticist if you receive a positive, negative, or uncertain result, to understand its implications for your health and for family planning decisions.

Limitations

  • ⚠NGS may not detect large deletions, duplications, or structural rearrangements in the STAMBP gene
  • ⚠Variants of uncertain significance (VUS) may not provide a definitive diagnosis without additional testing
  • ⚠This test only analyses the STAMBP gene and does not assess other genes associated with microcephaly or capillary malformations
  • ⚠Mobile element insertions or deep intronic variants may be missed

Risks & Considerations

  • ●Minimal risk of bruising or infection from blood draw
  • ●Psychological impact of receiving genetic information
  • ●Possibility of uncertain or incidental findings

Interfering Factors

  • ●Sample degradation due to improper storage or transport
  • ●Contamination of extracted DNA during processing
  • ●Incomplete clinical history or pedigree information
  • ●Variants of uncertain significance requiring additional family studies

Compare With Similar Tests

TestSTAMBP Gene Microcephaly-capillary malformation syndrome NGS Genetic TestSTAMBP Gene NGS Genetic TestMicrocephaly NGS PanelWhole Exome SequencingChromosomal Microarray (CMA)
ComparisonSTAMBP Gene Microcephaly-capillary malformation syndrome NGS Genetic Test

Frequently Asked Questions

What is the STAMBP Gene Microcephaly-Capillary Malformation Syndrome NGS Genetic Test?
It is a targeted Next-Generation Sequencing test that analyzes the STAMBP gene to detect mutations that cause Microcephaly-Capillary Malformation Syndrome (MIC-CAP). It helps confirm the diagnosis in symptomatic individuals.
How much does the test cost?
The test cost is Rs 20,000 at DNA Labs India. Free home sample collection is available for online bookings across major Indian cities.
What type of sample is required?
The test can be performed on a blood sample, extracted DNA, saliva, or one drop of blood on an FTA card. Both blood and saliva are acceptable if collected properly.
Do I need to fast before the test?
No, fasting is not required for this genetic test. You can eat and drink normally.
How long does it take to get results?
The reports are generally delivered within 3 to 4 weeks after the sample reaches the laboratory.
What is the inheritance pattern of MIC-CAP?
MIC-CAP caused by STAMBP mutations has an autosomal dominant inheritance pattern, meaning one mutated copy of the gene can cause the disorder. Some cases may arise de novo.
Will the test report be sufficient for diagnosis?
A positive result for a pathogenic mutation confirms the diagnosis. If a variant of uncertain significance is found, additional family studies may be needed. Clinical correlation is essential.
Does DNA Labs India share raw data?
Yes, DNA Labs India is transparent. Along with the clinical test report, you will receive raw data files including FASTQ and VCF for the STAMBP gene analysis.
Can this test detect all genetic causes of microcephaly?
No, this test specifically analyzes the STAMBP gene. For a broader assessment, a microcephaly NGS panel or whole exome sequencing may be recommended.
Is a genetic counselling session needed?
Yes, pre-test genetic counselling is recommended to document a family pedigree and understand the implications of the test.
Is home sample collection available?
Yes, free home sample collection is provided for online bookings in more than 300 cities across India, including Mumbai, Delhi, Bangalore, Hyderabad, and many more.
Is the test covered by health insurance?
It depends on your insurance provider. You may check with the laboratory for documentation.
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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