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Genetic Test & Diagnosis

Report Interpretation and Counselling of the patient is done by the Genetic counselor .

Various genetic Tests available are :

1. Fluorescent In Situ hybridisation (FISH),

2. Karyotype,

3. Tandem Mass Spectrometry (TMS),

4. Urine Gas Chromatography Mass Spectrometry (GCMS), Microarray,

5. Next generation Sequencing (NGS).

Sequencing the genes is helpful in diagnosing the various disorders i.e.

Gaucher disease , Sandhoff disease, Glutaric aciduria type I , HMG CoA lyase deficiency,

Tay Sachs disease, , Pompe disease, Maple syrup urine disease, Propionic academia etc..