Achondroplasia

Achondroplasia is a genetic condition associated with variants in the FGFR3 gene or genes. Molecular genetic testing can assist with diagnostic confirmation, familial assessment, and appropriate clinical evaluation.

Indications: Why test FGFR3?

Clinical findings suggestive of Achondroplasia.
Family history of Achondroplasia or a known familial genetic variant.
Molecular confirmation following appropriate clinical assessment.
Genetic assessment of relatives where clinically indicated.

When should I take the test? Testing may be considered when clinical findings or family history suggest Achondroplasia and molecular confirmation is clinically indicated.

Do I need to fast or prepare? No fasting or special preparation is required.

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Test Summary Specs

Turnaround Time	7 to 14 Business Days
Estimated Cost	KES 25,000
Methodology	Targeted PCR / Sanger / NGS Variant Panel
Sample Type	5 mL Peripheral Whole Blood (EDTA), Buccal Swabs, or Prenatal Samples
Clinical Use	Diagnostic Confirmation, Carrier Screening, Reproductive Risk Assessment