Getting Testing Done in India

Genetic testing is not routinely stocked by Indian laboratories, and cost is a real barrier for many families. There is a well-established route around both problems, and it is worth knowing about.

A specialist laboratory in Exeter, in the United Kingdom, provides genetic testing for neonatal diabetes and has funded free testing for families who cannot access or afford it locally. It has tested babies referred from dozens of countries, India among them.

The essentials:

• Eligibility is based on diabetes diagnosed before nine months of age — regardless of how old your child is now. An older child who was diagnosed as a baby still qualifies.
• The referral is made by your doctor, not by you directly. A request form is submitted first to confirm eligibility, then the sample is sent.
• The sample is a small quantity of blood in a specific tube. Samples from both parents are encouraged and are tested at no extra cost when sent at the same time.
• The first result, covering the commonest genes, typically comes back within one to two weeks. If nothing is found, a wider panel follows over the next two to three months.

Across all referrals, a genetic cause is identified in about 82% of babies.

What you can do is make sure the conversation happens. Ask your paediatrician or endocrinologist directly whether the sample has been sent and where to. If your treating doctor is unfamiliar with the route, a referral to a paediatric endocrinology centre is a reasonable next step.

India also has centres running research and registry programmes in neonatal diabetes, so ask whether one is accessible to you.