Microcephaly Gene Panel Test: Booking, Price, and Results

The microcephaly gene panel test is a genetic test that analyses multiple genes associated with microcephaly, a condition where a child's head is significantly smaller than expected for their age and sex. It uses Next-Generation Sequencing (NGS), a method that reads large sections of a person's DNA simultaneously. The test is typically requested for infants or children showing signs of microcephaly, or for family members of someone already diagnosed. It is also known as the Microcephaly NGS panel or MCPH gene panel.

This test is requested when a clinician suspects a genetic cause for an abnormally small head size or associated neurological concerns.

Common Symptoms That May Require This Test

The following symptoms may lead a doctor to recommend the microcephaly gene panel test procedure:

• Head circumference significantly smaller than average for age and sex
• Developmental delays in speech or movement
• Intellectual disability or learning difficulties
• Seizures
• Poor coordination and balance
• Hyperactivity or behavioural concerns
• Facial differences or short stature

Conditions This Test Can Help Detect

This panel can support the diagnosis of several genetic conditions, including:

• Autosomal recessive primary microcephaly (MCPH)
• Seckel syndrome, which involves severe growth restriction, microcephaly, and distinctive facial features
• Microcephalic osteodysplastic primordial dwarfism (MOPD2)
• Warburg Micro syndrome
• Microcephaly, seizures, and developmental delay (MCSZ)
• Other syndromic forms of microcephaly

The microcephaly gene panel test procedure may be done via different sample types depending on the clinical indication. Genetic counselling is recommended before and after testing to help understand the test results and their implications.

Peripheral Blood Collection

1. A trained healthcare professional confirms the patient’s identity before sample collection.
2. The skin over the collection site is cleaned with an antiseptic solution.
3. A small blood sample is collected from a vein in the arm using a sterile needle.
4. The sample is collected in an EDTA tube (purple/lavender-top tube).
5. The tube is labelled and sent to the laboratory for testing.

Buccal Swab/Saliva Collection

1. A healthcare professional or trained staff member collects the sample.
2. For a buccal swab, a soft swab is gently rubbed inside the cheek to collect cells.
3. For saliva collection, the patient provides a saliva sample in a sterile container.
4. The sample is labelled and transported to the laboratory.

Amniotic Fluid Collection

1. The doctor explains the procedure and obtains informed consent.
2. The abdomen is cleaned with an antiseptic solution.
3. Under ultrasound guidance, a thin sterile needle is inserted to collect a small amount of amniotic fluid (fluid surrounding the baby during pregnancy).
4. The sample is transferred to a sterile collection tube and sent to the laboratory.

Chorionic Villus Sampling (CVS)

1. The procedure is explained, and informed consent is obtained before collection.
2. A trained specialist collects a small placental tissue sample called chorionic villi under ultrasound guidance in a hospital setting.
3. The sample is placed in a sterile container and transported to the laboratory.

Results from this test are qualitative, meaning they are not reported as numbers but as interpretive categories. Your doctor or clinical geneticist will review the findings in the context of your child's clinical picture and family history.

These categories are general guidelines. Your doctor will interpret your results based on your child's age, health history, clinical findings, and family background. Always consult a qualified healthcare professional for personalised medical advice.

While this is a diagnostic test rather than a monitoring tool, the following general steps support the best outcomes after testing:

• Begin early intervention therapies such as speech therapy and occupational therapy as early as possible, regardless of genetic findings.
• Attend regular developmental monitoring appointments to track progress and adjust support as needed.
• Seek genetic counselling after receiving results to understand recurrence risk and options for family planning.

1. Select the test on the Lupin Diagnostics website.
2. Choose your city and preferred time slot.
3. Home sample collection may be available for eligible sample types such as peripheral blood or saliva. Specialised prenatal samples such as amniotic fluid or CVS are collected at authorised healthcare facilities under medical supervision.
4. Receive your report via email or WhatsApp within the stipulated turnaround time.

Home Collection

Lupin Diagnostics offers home sample collection for eligible sample types used in the microcephaly gene panel test across multiple cities. Samples are collected by trained and certified professionals. Specialised prenatal samples, such as amniotic fluid or CVS, require collection at authorised healthcare facilities. All samples are processed in NABL-accredited laboratories to ensure reliable and accurate results. Digital reports are shared via email or WhatsApp once ready.