Endocrine Genetics:

The endocrine system is a complex network of glands that work together. A problem in one gland can affect others, making it challenging to pinpoint the issue. Traditional hormone tests can sometimes indicate abnormalities but fail to confirm a diagnosis. Here’s where genetic testing for endocrine disorders becomes crucial.

These tests provide a clear genetic diagnosis of endocrine disorders, helping doctors create effective treatment plans. Additionally, it assists in understanding whether a condition is hereditary, guiding preventive care for family members.

Inherited endocrine disorders result from defective genes, leading to
overproduction or underproduction of hormones. Some common conditions
include:

• Congenital Hypothyroidism: A condition where infants are born with
  an underactive thyroid gland, affecting growth and development.
• Obesity: Excessive body weight primarily due to inherited genes
  affecting metabolism and fat storage.
• Diabetes, including MODY: Metabolic disorders characterised by high blood sugar, with MODY being a rare, inherited form appearing in young adults.
• Congenital Adrenal Hyperplasia (CAH): Genetic disorder affecting adrenal glands, causing hormone imbalances and impacting growth and development.
• Androgen Receptor Deficiency: A condition where the body’s cells don’t respond properly to male sex hormones, affecting sexual development.
• Kallmann Syndrome: A genetic disorder causing delayed or absent puberty and an impaired sense of smell.
• Familial Lipid Disorders: Inherited conditions leading to abnormal blood lipid levels, increasing the risk of heart disease.

At MedGenome Labs, we use advanced technologies to provide accurate results for endocrine genetic testing. Our two most advanced methodologies for endocrine genetic disorders include:

1. Next-Generation Sequencing (NGS): This technology sequences your DNA to identify mutations in specific genes. It offers a comprehensive view, analysing multiple genes simultaneously that might be missed by other methods.
2. Multiplex Ligation-dependent Probe Amplification (MLPA): MLPA identifies deletions or duplications in genes, which are structural changes in your DNA. These structural changes can be significant in diagnosing genetic disorders, as they might affect how genes function.

In addition, MedGenome Labs also employs a few other testing methods, including:

• Sanger Sequencing: This method is often used to confirm the results obtained from NGS. It provides very high accuracy for specific parts of genes.
• Fragment Analysis: Fragment analysis detects specific genetic variations by analysing the length of DNA fragments.
• Karyotyping: Karyotyping examines the size, shape, and number of chromosomes in cells to detect any chromosomal abnormalities.

Each of these endocrine genetics tests has its own specific turnaround time (TAT), which can range from 7 to 21 working days.