Genetic Disorders

Affordable. Reliable. Personal.

About Genetic Disorders

Connecting you with India’s leading specialists in these medical fields

• Down Syndrome (Trisomy 21)
• Thalassemia Major
• Sickle Cell Disease
• Duchenne Muscular Dystrophy (DMD)
• Spinal Muscular Atrophy (SMA)
• Cystic Fibrosis
• Fragile X Syndrome
• Turner & Klinefelter Syndromes
• Inborn Errors of Metabolism

Whole Exome Sequencing (WES) is an advanced genetic test that analyzes all the protein-coding regions (exons) of genes in the DNA to identify mutations or inherited conditions causing disease. It is especially useful for diagnosing rare or unexplained genetic disorders in both children and adults.

Comprehensive Diagnosis:
Detects thousands of possible gene mutations in one test, improving diagnosis accuracy.
Time-Saving:
Reduces the need for multiple genetic tests by covering a wide range in one go.
Personalized Care:
Helps doctors choose the right treatment based on specific gene mutations.

Does Not Cover All DNA:
Only examines exons (1–2% of genome); may miss mutations in non-coding regions.
Variants of Uncertain Significance (VUS):
May reveal genetic changes with unclear medical meaning, causing confusion.
Incidental Findings:
May uncover unrelated health risks, leading to emotional or ethical concerns.

Location	Approximate Cost
🇺🇸 USD	$500 – $1,500
🇰🇪 KES	KSh 65,000 – 195,000

Note: Costs vary by hospital, gene panels included, and whether trio testing (child + parents) is done.

Enzyme Replacement Therapy (ERT) is a medical treatment for genetic disorders where the body lacks specific enzymes. It involves regularly infusing synthetic enzymes to replace the missing or defective ones, helping manage symptoms in conditions like Gaucher disease, Fabry disease, or Pompe disease.

Targets the Root Cause:
Directly replaces the missing enzyme, addressing the underlying biochemical issue.
Improves Quality of Life:
Reduces symptoms such as pain, organ damage, or fatigue in many metabolic disorders.
Non-Invasive Ongoing Management:
Administered through IV infusion, often on an outpatient basis.

Lifelong Treatment:
Requires ongoing infusions (weekly or biweekly), which can be time-consuming and expensive.
Limited CNS Impact:
Most ERTs do not cross the blood-brain barrier, so they are less effective for neurological symptoms.
Risk of Allergic Reactions:
Some patients may develop antibodies or hypersensitivity to the infused enzyme.

Location	Approximate Cost per Year
🇺🇸 USD	$100,000 – $500,000+
🇰🇪 KES	KSh 13 million – 65 million+

Note: Costs depend on the specific disease, patient weight, dose required, and brand of enzyme used. In India, some generic or biosimilar ERTs may reduce the cost by up to 40–60%.

Targets the Root Cause:
Directly replaces the missing enzyme, addressing the underlying biochemical issue.
Improves Quality of Life:
Reduces symptoms such as pain, organ damage, or fatigue in many metabolic disorders.
Non-Invasive Ongoing Management:
Administered through IV infusion, often on an outpatient basis.

Lifelong Treatment:
Requires ongoing infusions (weekly or biweekly), which can be time-consuming and expensive.
Limited CNS Impact:
Most ERTs do not cross the blood-brain barrier, so they are less effective for neurological symptoms.
Risk of Allergic Reactions:
Some patients may develop antibodies or hypersensitivity to the infused enzyme.

Location	Approximate Cost per Year
🇺🇸 USD	$100,000 – $500,000+
🇰🇪 KES	KSh 13 million – 65 million+

Note: Costs depend on the specific disease, patient weight, dose required, and brand of enzyme used. In India, some generic or biosimilar ERTs may reduce the cost by up to 40–60%.

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