Skip to main content
DNA Labs India

ABCC8 Gene Hypoglycemia of infancy, leucine-sensitive NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ABCC8 Gene Hypoglycemia of infancy, leucine-sensitive NGS Genetic Test

Short Name: ABCC8 Gene Test

Also known as: Leucine-sensitive hypoglycemia, ABCC8-related hypoglycemia

ABCC8 Gene Hypoglycemia of infancy, leucine-sensitive NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestInfants🏠 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

The purpose of this test is to identify mutations in the ABCC8 gene that cause leucine-sensitive hypoglycemia of infancy. It aids in confirming diagnosis, guiding treatment decisions, and assessing risk for family members. Genetic testing can inform about prognosis and enable early intervention to prevent neurological damage.

Test Code
2112
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Obtain clinical history of the patient and conduct a genetic counseling session to draw a pedigree chart of affected family members. Ensure informed consent is provided.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample is collected via venipuncture under sterile conditions. The sample is labeled and placed in an EDTA tube.

Step 3

Report Delivery

The sample is packaged in the provided kit and shipped to DNA Labs India for analysis. Monitor the patient for any post-collection discomfort.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Ensure a genetic counseling session is completed. Provide a detailed family history. No fasting is required, but follow any specific instructions from your healthcare provider.
2
During the Test:A blood sample will be drawn from a vein in the arm. The procedure takes a few minutes and may cause minor discomfort.
3
After the Test:Apply pressure to the collection site to prevent bleeding. Resume normal activities. Wait for the report, which will be delivered in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the ABCC8 gene that cause leucine-sensitive hypoglycemia of infancy. It aids in confirming diagnosis, guiding treatment decisions, and assessing risk for family members. Genetic testing can inform about prognosis and enable early intervention to prevent neurological damage.

How to Prepare

  • Use the sample collection kit provided by DNA Labs India.
  • Collect blood in an EDTA tube following standard phlebotomy procedures.
  • Label the tube with patient details and date of collection.
  • Store the sample at ambient room temperature (15-30°C) until shipment.
  • Ship the sample within 24 hours of collection using the provided shipping materials.

Doctor's Notes

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

"Early genetic diagnosis of ABCC8-related hypoglycemia is crucial to prevent neurological complications in infants. Consult a genetic counselor for family planning implications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume3-5 mL
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable at ambient temperature for 48 hours
For longer storage, refrigerate at 2-8°C for up to 7 days
Sample Rejection Criteria:
  • Sample hemolyzed or clotted
  • Insufficient volume collected
  • Incorrect labeling or missing patient information
  • Sample received after 7 days of collection without prior arrangement

Understanding Your Results

Results indicate whether pathogenic variants in the ABCC8 gene are detected. A positive result confirms genetic diagnosis, while a negative result suggests no mutations in this gene, though other causes may exist.
Positive for pathogenic variants: Confirms ABCC8-related hypoglycemia. Consult a geneticist for management and family testing.
Negative for pathogenic variants: Mutations not detected in ABCC8. Consider other genetic tests or clinical evaluation.
Variant of uncertain significance: Further testing or family studies may be needed for clarification.
⚠️ When to Consult a Doctor:

Consult a doctor or genetic specialist immediately if your infant shows symptoms of hypoglycemia such as seizures, lethargy, or poor feeding. For positive test results, seek genetic counseling for treatment planning and family risk assessment.

Limitations

  • ⚠May not detect all possible variants in the ABCC8 gene
  • ⚠Does not rule out other genetic causes of hypoglycemia
  • ⚠Results require correlation with clinical findings
  • ⚠Turnaround time is 3-4 weeks, which may delay urgent decisions

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Psychological impact of genetic results on family
  • ●Risk of sample mix-up or technical error (minimized by accreditation)

Interfering Factors

  • ●Sample contamination during collection or transport
  • ●Degraded DNA due to improper storage
  • ●Recent blood transfusions may affect DNA analysis
  • ●Technical errors in sequencing

Compare With Similar Tests

TestABCC8 Gene Hypoglycemia of infancy, leucine-sensitive NGS Genetic TestKCNJ11 Gene TestINS Gene TestGLUD1 Gene TestComprehensive Hypoglycemia Panel
ComparisonABCC8 Gene Hypoglycemia of infancy, leucine-sensitive NGS Genetic Test

Frequently Asked Questions

What is ABCC8 gene hypoglycemia of infancy?
It is a rare genetic disorder caused by mutations in the ABCC8 gene, leading to impaired insulin regulation and low blood sugar in infants, often triggered by leucine intake.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the ABCC8 gene from a blood sample. It detects mutations that cause leucine-sensitive hypoglycemia.
What are the symptoms of this condition?
Symptoms include hypoglycemia, seizures, lethargy, poor feeding, irritability, and pale or bluish skin in infants, typically appearing in the first few weeks of life.
Who should consider this test?
Infants with unexplained hypoglycemia, seizures, or family history of ABCC8 mutations. Genetic counseling is recommended before testing.
What is the cost of the test?
The NGS Genetic Test for ABCC8 gene hypoglycemia costs INR 20,000, which includes sample collection kit, shipping, analysis, and report.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample receipt.
What does a positive result mean?
A positive result confirms the presence of pathogenic variants in the ABCC8 gene, indicating genetic hypoglycemia. Consult a geneticist for management.
What if the test is negative?
A negative result means no mutations were detected in ABCC8, but other genetic or non-genetic causes may exist. Further evaluation may be needed.
Are there any risks to the test?
The test involves a blood draw with minimal risks like bruising. Genetic testing may have psychological implications; counseling is advised.
Is the test accredited?
DNA Labs India is NABL accredited and ISO certified, ensuring high-quality testing standards.
How can I book the test?
You can book online via DNA Labs India's website or contact them directly. Home collection is available for convenience.
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.

Related Tests

Amino Acids Qualitative Urine & Plasma Test

₹3,000

Galactose Quantitative Plasma Test

₹1,872

Galactosemia Panel 3 Test

₹4,563

Galactosemia Panel 1 Test

₹2,867

Canavan Disease Test

₹4,500

Galactose-1-Phosphate Quantitative Blood Test

₹1,989
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.