
G6PD gene mutation
Author Details
Written By
Dr. Neha Kapoor
MBBS, DNB
Supervised By
Dr. Imran Sheikh
MBBS, DNB




G6PD gene mutation
Home G6PD gene mutation testing identifies deficiency and carrier status to guide safe medication and newborn care across Dubai and UAE.
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Home G6PD gene mutation testing detects pathogenic variants in the G6PD gene from a buccal swab or dried blood spot to determine enzyme deficiency or carrier status, complementing enzyme activity tests where needed. This information is clinically important because G6PD deficiency is X‑linked and can cause neonatal jaundice and acute haemolytic episodes when exposed to triggers (certain antibiotics, antimalarials, or fava beans), so knowing genetic status helps guide safe prescribing and newborn care. The service is available across Dubai and the UAE as a lab‑at‑home option with clear reporting and referral for genetic counselling, making it suitable for newborn screening, relatives of affected individuals, women planning pregnancy, or patients who may need oxidative medications.
Parameters Measured
- G6PD gene mutation screening (G6PD)
- Common pathogenic variants: Mediterranean, A‑/A‑, Canton, Kaiping, Viangchan, Mahidol, Union
- Zygosity determination: hemizygous / heterozygous / homozygous
- Carrier status and genetic risk reporting
- Predicted enzyme-deficiency risk and hemolysis susceptibility
- Clinical interpretation for newborn care and medication guidance in UAE
When to Test it?
- Molecular testing for G6PD gene variants to confirm deficiency or carrier status
- Home sample collection (finger‑prick or buccal swab) across Dubai and UAE by licensed technicians
- Identifies X‑linked carrier status to inform prenatal counselling and family screening
- Provides medication‑safety guidance on drugs and oxidative triggers to avoid
- Clinically formatted genetic report compatible with UAE healthcare providers and newborn records
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Benefits Includes:
- Molecular detection of G6PD gene mutations to identify deficiency and carrier status
- Home sample collection (buccal swab or finger‑prick) with service across Dubai and the UAE
- Clear genotype interpretation and clinical implications for newborn care and hemolytic risk
- Guidance on medication safety and avoidance of common triggers (certain drugs, infections, fava beans)
- Analysis in UAE‑accredited labs with optional genetic counseling and family screening recommendations
Doctor Recommended Checkups
Test requirements:
- At‑home buccal swab collection across Dubai and UAE with secure courier transfer to an accredited genetics laboratory
- Molecular analysis for common and rare G6PD gene variants to identify deficiency and female carrier status
- Actionable report highlighting medication-related risks and newborn care recommendations aligned with UAE clinical standards
- Confidential electronic results with optional genetic counselling referral and typical turnaround of 5–10 business days
Author Details
Written By
Dr. Neha Kapoor
MBBS, DNB
Supervised By
Dr. Imran Sheikh
MBBS, DNB

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